A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804733



Internal ID10207473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169029729..169030041hg38UCSC Ensembl
Outerchr2:169886239..169886551hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721109
Supporting Variants
SamplesSSM074
Known GenesABCB11
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)essv6804733
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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