A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731493



Internal ID10315129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3326748..3327313hg38UCSC Ensembl
Outerchr6:3326982..3327547hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6798735, essv6700949, essv6943259
SamplesSSM039, SSM023, SSM072
Known GenesSLC22A23
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)esv2731493
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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