esv3883505

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:29
Validation:Not tested
Clinical Assertions: No
Region Size:88,424

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 471 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):27,645,796-27,736,219

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3883505	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
esv3883505	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24640584	deletion	HG00235	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,092
essv24640585	deletion	HG00349	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,085
essv24640586	deletion	HG00351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,416
essv24640587	deletion	HG01271	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,332
essv24640588	deletion	HG01272	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,109
essv24640589	deletion	HG01275	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,017
essv24640590	deletion	HG01625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,442
essv24640591	deletion	HG02088	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,386
essv24640592	deletion	HG02285	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,401
essv24640593	deletion	HG02318	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,499
essv24640594	deletion	HG02496	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,688
essv24640595	deletion	HG02497	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,514
essv24640596	deletion	HG04222	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,731
essv24640597	deletion	NA12874	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,371
essv24640598	deletion	NA18642	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,139
essv24640599	deletion	NA18645	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,415
essv24640600	deletion	NA18939	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,322
essv24640601	deletion	NA18954	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,085
essv24640602	deletion	NA18962	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,328
essv24640603	deletion	NA18992	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,991
essv24640604	deletion	NA18994	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,364
essv24640605	deletion	NA19036	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv24640606	deletion	NA19118	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,491
essv24640607	deletion	NA19146	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,730
essv24640608	deletion	NA19214	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,493
essv24640609	deletion	NA19741	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,283
essv24640610	deletion	NA20298	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,743
essv24640611	deletion	NA20412	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,458
essv24640612	deletion	NA21115	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,388

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24640584	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640585	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640586	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640587	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640588	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640589	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640590	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640591	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640592	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640593	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640594	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640595	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640596	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640597	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640598	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640599	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640600	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640601	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640602	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640603	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640604	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640605	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640606	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640607	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640608	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640609	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640610	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640611	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640612	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv24640584	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640585	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640586	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640587	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640588	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640589	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640590	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640591	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640592	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640593	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640594	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640595	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640596	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640597	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640598	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640599	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640600	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640601	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640602	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640603	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640604	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640605	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640606	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640607	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640608	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640609	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640610	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640611	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv24640612	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)

dbVar

Database of genomic structural variation

esv3883505

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.