A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616760



Internal ID7003646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29272628..29276424hg38UCSC Ensembl
Innerchr8:29272628..29276424hg38UCSC Ensembl
Outerchr8:29272128..29276924hg38UCSC Ensembl
chr8:29130145..29133941hg19UCSC Ensembl
Innerchr8:29130145..29133941hg19UCSC Ensembl
Outerchr8:29129645..29134441hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383797
hg193797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153497, essv13153496
SamplesNA19922, HG03388
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616760
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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