A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962231



Internal ID9721407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174225921..174226206hg38UCSC Ensembl
Outerchr2:175090649..175090934hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721155
Supporting Variants
SamplesSSM027
Known GenesOLA1
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)essv6962231
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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