A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669431



Internal ID9741323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33256738..33256790hg38UCSC Ensembl
Outerchr2:33481805..33481857hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719888, esv2719887, esv2719885, esv2719886
Supporting Variants
SamplesSSM031
Known GenesLTBP1
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)essv6669431
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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