A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213423



Internal ID2301021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64331772..64344714hg38UCSC Ensembl
Innerchr8:64332272..64344214hg38UCSC Ensembl
Outerchr8:64330772..64345714hg38UCSC Ensembl
chr8:65244329..65257271hg19UCSC Ensembl
Innerchr8:65244829..65256771hg19UCSC Ensembl
Outerchr8:65243329..65258271hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3812943
hg1912943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617449
Supporting Variants
SamplesHG02052
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213423
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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