A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865426



Internal ID10262365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172296814..172296965hg38UCSC Ensembl
Outerchr5:171723818..171723969hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731094, esv2731096
Supporting Variants
SamplesSSM089
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6865426
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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