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

dbVar

Database of genomic structural variation

esv3868238

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:46,029

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 318 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):82,773,467-82,819,729

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3868238	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
esv3868238	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22905958	deletion	HG00173	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,003
essv22905959	deletion	HG00185	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,592
essv22905960	deletion	HG00280	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,559
essv22905961	deletion	HG00346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,334
essv22905962	deletion	HG00384	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv22905963	deletion	NA12044	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,452
essv22905964	deletion	NA21144	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,463

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22905958	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905959	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905960	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905961	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905962	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905963	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905964	Remapped	Perfect	NC_000012.12:g.(82 773467_82773592)_( 82819620_82819729) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	82,773,592 (-125, +0)	82,819,620 (-0, +109)
essv22905958	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)
essv22905959	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)
essv22905960	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)
essv22905961	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)
essv22905962	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)
essv22905963	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)
essv22905964	Submitted genomic		NC_000012.11:g.(83 167246_83167371)_( 83213399_83213508) del	GRCh37 (hg19)		NC_000012.11	Chr12	83,167,371 (-125, +0)	83,213,399 (-0, +109)

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