A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617598



Internal ID7004483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71651400..71654360hg38UCSC Ensembl
Innerchr8:71651400..71654360hg38UCSC Ensembl
Outerchr8:71651128..71654648hg38UCSC Ensembl
chr8:72563635..72566595hg19UCSC Ensembl
Innerchr8:72563635..72566595hg19UCSC Ensembl
Outerchr8:72563363..72566883hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg382961
hg192961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13223862
SamplesNA18536
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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