A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617479



Internal ID7004364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66130482..66132987hg38UCSC Ensembl
Innerchr8:66130519..66132950hg38UCSC Ensembl
Outerchr8:66130445..66133024hg38UCSC Ensembl
chr8:67042717..67045222hg19UCSC Ensembl
Innerchr8:67042754..67045185hg19UCSC Ensembl
Outerchr8:67042680..67045259hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382506
hg192506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13214301
SamplesNA19065
Known GenesTRIM55
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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