esv3843417

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:27
Validation:Not tested
Clinical Assertions: No
Region Size:15,702

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: 213 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):181,272,060-181,289,761

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3843417	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
esv3843417	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19891258	deletion	HG01678	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,558
essv19891259	deletion	HG02051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,099
essv19891260	deletion	HG02851	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,011
essv19891261	deletion	HG02938	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,461
essv19891262	deletion	HG02941	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,309
essv19891263	deletion	HG02971	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,790
essv19891264	deletion	HG03054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,343
essv19891265	deletion	HG03095	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,044
essv19891266	deletion	HG03126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,992
essv19891267	deletion	HG03199	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,836
essv19891268	deletion	HG03391	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,187
essv19891269	deletion	HG03419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,686
essv19891270	deletion	HG03439	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,090
essv19891271	deletion	NA18856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,348
essv19891272	deletion	NA18861	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,974
essv19891273	deletion	NA18917	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,420
essv19891274	deletion	NA19098	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,311
essv19891275	deletion	NA19152	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,784
essv19891276	deletion	NA19153	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,426
essv19891277	deletion	NA19159	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,279
essv19891278	deletion	NA19198	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,470
essv19891279	deletion	NA19206	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,295
essv19891280	deletion	NA19239	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,426
essv19891281	deletion	NA19316	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,137
essv19891282	deletion	NA19393	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,049
essv19891283	deletion	NA19625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,753
essv19891284	deletion	NA19713	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,971

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19891258	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891259	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891260	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891261	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891262	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891263	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891264	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891265	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891266	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891267	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891268	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891269	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891270	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891271	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891272	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891273	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891274	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891275	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891276	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891277	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891278	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891279	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891280	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891281	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891282	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891283	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891284	Remapped	Perfect	NC_000005.10:g.(18 1272060_181273560) _(181288261_181289 761)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,273,060 (-1000, +500)	181,288,761 (-500, +1000)
essv19891258	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891259	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891260	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891261	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891262	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891263	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891264	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891265	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891266	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891267	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891268	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891269	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891270	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891271	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891272	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891273	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891274	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891275	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891276	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891277	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891278	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891279	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891280	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891281	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891282	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891283	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)
essv19891284	Submitted genomic		NC_000005.9:g.(180 699061_180700561)_ (180715262_1807167 62)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,700,061 (-1000, +500)	180,715,762 (-500, +1000)

dbVar

Database of genomic structural variation

esv3843417

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.