A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616261



Internal ID7003148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11879090..11881565hg38UCSC Ensembl
Innerchr8:11879090..11881565hg38UCSC Ensembl
Outerchr8:11879049..11881626hg38UCSC Ensembl
chr8:11736599..11739074hg19UCSC Ensembl
Innerchr8:11736599..11739074hg19UCSC Ensembl
Outerchr8:11736558..11739135hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13104162, essv13104163, essv13104164
SamplesHG02420, HG01048, NA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616261
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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