A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919692



Internal ID10030001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:96886693..96950003hg38UCSC Ensembl
Outerchr9:99648975..99712285hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3863311
hg1963311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738813
Supporting Variants
SamplesSSM017
Known GenesHIATL2, LOC441454, NUTM2G
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)essv6919692
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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