A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211274



Internal ID3627022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61347352..61348335hg38UCSC Ensembl
Innerchr8:61347387..61348300hg38UCSC Ensembl
Outerchr8:61347317..61348370hg38UCSC Ensembl
chr8:62259911..62260894hg19UCSC Ensembl
Innerchr8:62259946..62260859hg19UCSC Ensembl
Outerchr8:62259876..62260929hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617384
Supporting Variants
SamplesHG03225
Known GenesCLVS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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