A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12738494



Internal ID3760415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37559507..37561444hg38UCSC Ensembl
Innerchr7:37559529..37561423hg38UCSC Ensembl
Outerchr7:37559486..37561466hg38UCSC Ensembl
chr7:37599110..37601047hg19UCSC Ensembl
Innerchr7:37599132..37601026hg19UCSC Ensembl
Outerchr7:37599089..37601069hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381938
hg191938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612853
Supporting Variants
SamplesHG03391
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12738494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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