A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738622



Internal ID10322258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:79273781..79274176hg38UCSC Ensembl
Outerchr9:81888696..81889091hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701949, essv6783035
SamplesSSM039, SSM068
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)esv2738622
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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