A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6926678



Internal ID9689409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179313270..179313895hg38UCSC Ensembl
Outerchr5:178740271..178740896hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731286, esv2731287
Supporting Variants
SamplesSSM019
Known GenesADAMTS2
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)essv6926678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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