esv3593815

Organism: Homo sapiens

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

Variant Calls:31
Validation:Not tested
Clinical Assertions: No
Region Size:34,538

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: 282 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):193,713,840-193,748,377

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3593815	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
esv3593815	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	194,578,564	194,613,101

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10807178	deletion	SAMN00006451	Sequencing	Read depth and paired-end mapping	Heterozygous	2,848
essv10807179	deletion	SAMN00006477	Sequencing	Read depth and paired-end mapping	Heterozygous	2,841
essv10807180	deletion	SAMN01036849	Sequencing	Read depth and paired-end mapping	Heterozygous	2,759
essv10807181	deletion	SAMN00249893	Sequencing	Read depth and paired-end mapping	Heterozygous	2,605
essv10807182	deletion	SAMN00249894	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819
essv10807183	deletion	SAMN00009186	Sequencing	Read depth and paired-end mapping	Heterozygous	2,841
essv10807184	deletion	SAMN00014312	Sequencing	Read depth and paired-end mapping	Heterozygous	2,881
essv10807185	deletion	SAMN00014357	Sequencing	Read depth and paired-end mapping	Heterozygous	2,211
essv10807186	deletion	SAMN00249913	Sequencing	Read depth and paired-end mapping	Heterozygous	2,757
essv10807187	deletion	SAMN00249826	Sequencing	Read depth and paired-end mapping	Heterozygous	2,733
essv10807188	deletion	SAMN00249838	Sequencing	Read depth and paired-end mapping	Heterozygous	2,717
essv10807189	deletion	SAMN00249685	Sequencing	Read depth and paired-end mapping	Heterozygous	2,730
essv10807190	deletion	SAMN00249687	Sequencing	Read depth and paired-end mapping	Heterozygous	2,706
essv10807191	deletion	SAMN00249694	Sequencing	Read depth and paired-end mapping	Heterozygous	2,610
essv10807192	deletion	SAMN00249717	Sequencing	Read depth and paired-end mapping	Heterozygous	2,342
essv10807193	deletion	SAMN00249796	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv10807194	deletion	SAMN00249799	Sequencing	Read depth and paired-end mapping	Heterozygous	2,866
essv10807195	deletion	SAMN00263032	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv10807196	deletion	SAMN01091140	Sequencing	Read depth and paired-end mapping	Heterozygous	2,566
essv10807197	deletion	SAMN00263002	Sequencing	Read depth and paired-end mapping	Heterozygous	2,660
essv10807198	deletion	SAMN01091151	Sequencing	Read depth and paired-end mapping	Heterozygous	2,146
essv10807199	deletion	SAMN00263053	Sequencing	Read depth and paired-end mapping	Heterozygous	2,787
essv10807200	deletion	SAMN00000423	Sequencing	Read depth and paired-end mapping	Heterozygous	2,679
essv10807201	deletion	SAMN00000928	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv10807202	deletion	SAMN00001611	Sequencing	Read depth and paired-end mapping	Heterozygous	2,700
essv10807203	deletion	SAMN00000430	Sequencing	Read depth and paired-end mapping	Heterozygous	2,736
essv10807204	deletion	SAMN00001619	Sequencing	Read depth and paired-end mapping	Heterozygous	2,847
essv10807205	deletion	SAMN00000468	Sequencing	Read depth and paired-end mapping	Heterozygous	2,686
essv10807206	deletion	SAMN00000501	Sequencing	Read depth and paired-end mapping	Heterozygous	2,567
essv10807207	deletion	SAMN00001065	Sequencing	Read depth and paired-end mapping	Heterozygous	2,781
essv10807208	deletion	SAMN00007789	Sequencing	Read depth and paired-end mapping	Heterozygous	2,431

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10807178	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807179	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807180	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807181	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807182	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807183	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807184	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807185	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807186	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807187	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807188	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807189	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807190	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807191	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807192	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807193	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807194	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807195	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807196	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807197	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807198	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807199	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807200	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807201	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807202	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807203	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807204	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807205	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807206	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807207	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807208	Remapped	Perfect	NC_000002.12:g.193 713840_193748377de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	193,713,840	193,748,377
essv10807178	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807179	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807180	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807181	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807182	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807183	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807184	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807185	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807186	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807187	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807188	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807189	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807190	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807191	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807192	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807193	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807194	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807195	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807196	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807197	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807198	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807199	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807200	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807201	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807202	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807203	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807204	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807205	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807206	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807207	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101
essv10807208	Submitted genomic		NC_000002.11:g.194 578564_194613101de l	GRCh37 (hg19)		NC_000002.11	Chr2	194,578,564	194,613,101

dbVar

Database of genomic structural variation

esv3593815

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.