A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213165



Internal ID6652221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63784948..63786722hg38UCSC Ensembl
Innerchr8:63784975..63786695hg38UCSC Ensembl
Outerchr8:63784921..63786749hg38UCSC Ensembl
chr8:64697505..64699279hg19UCSC Ensembl
Innerchr8:64697532..64699252hg19UCSC Ensembl
Outerchr8:64697478..64699306hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617434
Supporting Variants
SamplesNA20803
Known GenesLOC286184
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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