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

dbVar

Database of genomic structural variation

esv3817123

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:68,403

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: 529 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):20,578,532-20,648,934

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817123	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
esv3817123	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16816047	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16816048	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16816049	deletion	SAMN00249931	Sequencing	Read depth and paired-end mapping	Heterozygous	2,780
essv16816050	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16816051	deletion	SAMN00001590	Sequencing	Read depth and paired-end mapping	Heterozygous	3,076
essv16816052	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16816053	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16816054	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16816055	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16816047	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816048	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816049	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816050	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816051	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816052	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816053	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816054	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816055	Remapped	Perfect	NC_000023.11:g.(20 578532_20580032)_( 20647434_20648934) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	20,579,532 (-1000, +500)	20,647,934 (-500, +1000)
essv16816047	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816048	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816049	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816050	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816051	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816052	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816053	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816054	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-500, +1000)
essv16816055	Submitted genomic		NC_000023.10:g.(20 596650_20598150)_( 20665552_20667052) del	GRCh37 (hg19)		NC_000023.10	ChrX	20,597,650 (-1000, +500)	20,666,052 (-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