A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12657952



Internal ID6455655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:791320..794061hg38UCSC Ensembl
Innerchr7:791330..794051hg38UCSC Ensembl
Outerchr7:791310..794071hg38UCSC Ensembl
chr7:830957..833698hg19UCSC Ensembl
Innerchr7:830967..833688hg19UCSC Ensembl
Outerchr7:830947..833708hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611787
Supporting Variants
SamplesNA20514
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12657952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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