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

dbVar

Database of genomic structural variation

esv3830524

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:9
Validation:Not tested
Clinical Assertions: No
Region Size:31,271

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: 233 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):62,678,570-62,710,140

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3830524	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
esv3830524	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18319246	deletion	HG02922	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,081
essv18319247	deletion	HG02941	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,309
essv18319248	deletion	HG02946	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,645
essv18319249	deletion	HG03478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,888
essv18319250	deletion	HG03571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,951
essv18319251	deletion	NA18505	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv18319252	deletion	NA18879	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,191
essv18319253	deletion	NA19475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,150
essv18319254	deletion	NA19711	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,886

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18319246	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319247	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319248	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319249	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319250	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319251	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319252	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319253	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319254	Remapped	Perfect	NC_000003.12:g.(62 678570_62678870)_( 62709840_62710140) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	62,678,720 (-150, +150)	62,709,990 (-150, +150)
essv18319246	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319247	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319248	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319249	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319250	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319251	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319252	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319253	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)
essv18319254	Submitted genomic		NC_000003.11:g.(62 664245_62664545)_( 62695515_62695815) del	GRCh37 (hg19)		NC_000003.11	Chr3	62,664,395 (-150, +150)	62,695,665 (-150, +150)

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