Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3619630

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:283,917

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: 3603 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):11,731,199-12,017,115

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3619630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
esv3619630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13403626	deletion	SAMN00006341	Sequencing	Read depth and paired-end mapping	Heterozygous	2,683
essv13403627	deletion	SAMN00014365	Sequencing	Read depth and paired-end mapping	Heterozygous	2,871
essv13403628	deletion	SAMN01091022	Sequencing	Read depth and paired-end mapping	Heterozygous	2,764
essv13403629	deletion	SAMN00000435	Sequencing	Read depth and paired-end mapping	Heterozygous	2,808
essv13403630	deletion	SAMN00000470	Sequencing	Read depth and paired-end mapping	Heterozygous	2,578
essv13403631	deletion	SAMN00000485	Sequencing	Read depth and paired-end mapping	Heterozygous	2,624
essv13403632	deletion	SAMN00007940	Sequencing	Read depth and paired-end mapping	Heterozygous	2,492

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13403626	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403627	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403628	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403629	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403630	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403631	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403632	Remapped	Perfect	NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403626	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403627	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403628	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403629	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403630	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403631	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)
essv13403632	Submitted genomic		NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,732,199 (-1000, +500)	12,016,115 (-500, +1000)

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.

You are here: NCBI