A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853772



Internal ID10251879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109199330..109199874hg38UCSC Ensembl
Outerchr2:109815786..109816330hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720512
Supporting Variants
SamplesSSM087
Known GenesSH3RF3
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)essv6853772
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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