esv3817090

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:32
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 439 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):35,423,532-35,423,532

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817090	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
esv3817090	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	35,441,649	35,441,649

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16812748	copy number loss	SAMN00006580	Sequencing	Read depth and paired-end mapping	Heterozygous	2,978
essv16812749	copy number loss	SAMN00262972	Sequencing	Read depth and paired-end mapping	Heterozygous	3,149
essv16812750	copy number loss	SAMN00630232	Sequencing	Read depth and paired-end mapping	Heterozygous	3,247
essv16812751	copy number loss	SAMN01091048	Sequencing	Read depth and paired-end mapping	Heterozygous	2,346
essv16812752	copy number loss	SAMN00779964	Sequencing	Read depth and paired-end mapping	Heterozygous	3,151
essv16812753	copy number loss	SAMN00779987	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16812754	copy number loss	SAMN01036731	Sequencing	Read depth and paired-end mapping	Heterozygous	3,153
essv16812755	copy number loss	SAMN01036737	Sequencing	Read depth and paired-end mapping	Heterozygous	2,966
essv16812756	copy number loss	SAMN01036801	Sequencing	Read depth and paired-end mapping	Heterozygous	3,103
essv16812757	copy number loss	SAMN01036749	Sequencing	Read depth and paired-end mapping	Heterozygous	3,113
essv16812758	copy number loss	SAMN01761229	Sequencing	Read depth and paired-end mapping	Heterozygous	3,411
essv16812759	copy number loss	SAMN01090776	Sequencing	Read depth and paired-end mapping	Heterozygous	3,137
essv16812760	copy number loss	SAMN01761237	Sequencing	Read depth and paired-end mapping	Heterozygous	3,277
essv16812761	copy number loss	SAMN01036783	Sequencing	Read depth and paired-end mapping	Heterozygous	3,166
essv16812762	copy number loss	SAMN01090895	Sequencing	Read depth and paired-end mapping	Heterozygous	3,051
essv16812763	copy number loss	SAMN01090802	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv16812764	copy number loss	SAMN01090790	Sequencing	Read depth and paired-end mapping	Heterozygous	3,116
essv16812765	copy number loss	SAMN01090820	Sequencing	Read depth and paired-end mapping	Heterozygous	3,024
essv16812766	copy number loss	SAMN01761266	Sequencing	Read depth and paired-end mapping	Heterozygous	2,677
essv16812767	copy number loss	SAMN01090832	Sequencing	Read depth and paired-end mapping	Heterozygous	2,706
essv16812768	copy number loss	SAMN00001582	Sequencing	Read depth and paired-end mapping	Heterozygous	3,046
essv16812769	copy number loss	SAMN00001626	Sequencing	Read depth and paired-end mapping	Heterozygous	3,243
essv16812770	copy number loss	SAMN00001019	Sequencing	Read depth and paired-end mapping	Heterozygous	3,288
essv16812771	copy number loss	SAMN00001050	Sequencing	Read depth and paired-end mapping	Heterozygous	3,156
essv16812772	copy number loss	SAMN00000550	Sequencing	Read depth and paired-end mapping	Heterozygous	3,070
essv16812773	copy number loss	SAMN00001668	Sequencing	Read depth and paired-end mapping	Heterozygous	3,334
essv16812774	copy number loss	SAMN00001121	Sequencing	Read depth and paired-end mapping	Heterozygous	3,030
essv16812775	copy number loss	SAMN00001192	Sequencing	Read depth and paired-end mapping	Heterozygous	3,071
essv16812776	copy number loss	SAMN00007873	Sequencing	Read depth and paired-end mapping	Heterozygous	2,690
essv16812777	copy number gain	SAMN00016965	Sequencing	Read depth and paired-end mapping	Heterozygous	2,566
essv16812778	copy number gain	SAMN00006358	Sequencing	Read depth and paired-end mapping	Heterozygous	2,757
essv16812779	copy number gain	SAMN00001155	Sequencing	Read depth and paired-end mapping	Heterozygous	2,979

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16812748	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812749	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812750	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812751	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812752	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812753	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812754	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812755	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812756	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812757	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812758	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812759	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812760	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812761	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812762	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812763	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812764	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812765	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812766	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812767	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812768	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812769	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812770	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812771	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812772	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812773	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812774	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812775	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812776	Remapped	Perfect	NC_000023.11:g.354 23532del	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812777	Remapped	Perfect	NC_000023.11:g.354 23532dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812778	Remapped	Perfect	NC_000023.11:g.354 23532dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812779	Remapped	Perfect	NC_000023.11:g.354 23532dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,423,532	35,423,532
essv16812748	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812749	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812750	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812751	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812752	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812753	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812754	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812755	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812756	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812757	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812758	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812759	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812760	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812761	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812762	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812763	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812764	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812765	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812766	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812767	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812768	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812769	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812770	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812771	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812772	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812773	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812774	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812775	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812776	Submitted genomic		NC_000023.10:g.354 41649del	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812777	Submitted genomic		NC_000023.10:g.354 41649dup	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812778	Submitted genomic		NC_000023.10:g.354 41649dup	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649
essv16812779	Submitted genomic		NC_000023.10:g.354 41649dup	GRCh37 (hg19)		NC_000023.10	ChrX	35,441,649	35,441,649

dbVar

Database of genomic structural variation

esv3817090

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.