A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12693814



Internal ID2920271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21368693..21370743hg38UCSC Ensembl
Innerchr7:21368693..21370743hg38UCSC Ensembl
Outerchr7:21368454..21371006hg38UCSC Ensembl
chr7:21408311..21410361hg19UCSC Ensembl
Innerchr7:21408311..21410361hg19UCSC Ensembl
Outerchr7:21408072..21410624hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612503
Supporting Variants
SamplesHG02583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12693814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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