A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13219459



Internal ID6422510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70700793..70719964hg38UCSC Ensembl
Innerchr8:70700793..70719964hg38UCSC Ensembl
Outerchr8:70700293..70720464hg38UCSC Ensembl
chr8:71613028..71632199hg19UCSC Ensembl
Innerchr8:71613028..71632199hg19UCSC Ensembl
Outerchr8:71612528..71632699hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3819172
hg1919172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617571
Supporting Variants
SamplesNA20502
Known GenesXKR9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13219459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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