A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919517



Internal ID9683157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39150702..39151300hg38UCSC Ensembl
Outerchr8:39008221..39008819hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736899
Supporting Variants
SamplesSSM017
Known GenesADAM32
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)essv6919517
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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