esv3597073

Organism: Homo sapiens

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

Variant Calls:15
Validation:Not tested
Clinical Assertions: No
Region Size:19,748

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: 191 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):96,588,457-96,608,544

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3597073	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
esv3597073	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11073990	deletion	SAMN00004635	Sequencing	Read depth and paired-end mapping	Heterozygous	2,821
essv11073991	deletion	SAMN00004657	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv11073992	deletion	SAMN00006387	Sequencing	Read depth and paired-end mapping	Heterozygous	2,527
essv11073993	deletion	SAMN00006579	Sequencing	Read depth and paired-end mapping	Heterozygous	2,901
essv11073994	deletion	SAMN00006582	Sequencing	Read depth and paired-end mapping	Heterozygous	2,646
essv11073995	deletion	SAMN00009132	Sequencing	Read depth and paired-end mapping	Heterozygous	2,905
essv11073996	deletion	SAMN00014362	Sequencing	Read depth and paired-end mapping	Heterozygous	2,890
essv11073997	deletion	SAMN00263023	Sequencing	Read depth and paired-end mapping	Heterozygous	2,718
essv11073998	deletion	SAMN01096725	Sequencing	Read depth and paired-end mapping	Heterozygous	2,706
essv11073999	deletion	SAMN01090991	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819
essv11074000	deletion	SAMN01090978	Sequencing	Read depth and paired-end mapping	Heterozygous	2,789
essv11074001	deletion	SAMN00007747	Sequencing	Read depth and paired-end mapping	Heterozygous	2,856
essv11074002	deletion	SAMN00007777	Sequencing	Read depth and paired-end mapping	Heterozygous	2,181
essv11074003	deletion	SAMN00001251	Sequencing	Read depth and paired-end mapping	Heterozygous	2,887
essv11074004	deletion	SAMN00001323	Sequencing	Read depth and paired-end mapping	Heterozygous	2,907

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11073990	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073991	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073992	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073993	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073994	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073995	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073996	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073997	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073998	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073999	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11074000	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11074001	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11074002	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11074003	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11074004	Remapped	Perfect	NC_000003.12:g.(96 588457_96588660)_( 96608407_96608544) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	96,588,660 (-203, +0)	96,608,407 (-0, +137)
essv11073990	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073991	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073992	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073993	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073994	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073995	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073996	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073997	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073998	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11073999	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11074000	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11074001	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11074002	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11074003	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)
essv11074004	Submitted genomic		NC_000003.11:g.(96 307301_96307504)_( 96327251_96327388) del	GRCh37 (hg19)		NC_000003.11	Chr3	96,307,504 (-203, +0)	96,327,251 (-0, +137)

dbVar

Database of genomic structural variation

esv3597073

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.