A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13237154



Internal ID3238970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78519160..78601023hg38UCSC Ensembl
Innerchr8:78519180..78601003hg38UCSC Ensembl
Outerchr8:78519140..78601043hg38UCSC Ensembl
chr8:79431395..79513258hg19UCSC Ensembl
Innerchr8:79431415..79513238hg19UCSC Ensembl
Outerchr8:79431375..79513278hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3881864
hg1981864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617735
Supporting Variants
SamplesHG01912
Known GenesPKIA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13237154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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