A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616647



Internal ID7003533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24231752..24237968hg38UCSC Ensembl
Innerchr8:24231752..24237968hg38UCSC Ensembl
Outerchr8:24231627..24238101hg38UCSC Ensembl
chr8:24089265..24095481hg19UCSC Ensembl
Innerchr8:24089265..24095481hg19UCSC Ensembl
Outerchr8:24089140..24095614hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg386217
hg196217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13136358, essv13136357, essv13136356
SamplesNA19670, NA18907, HG02923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616647
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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