A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731742



Internal ID10315378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:27909916..27911276hg38UCSC Ensembl
Outerchr6:27877694..27879054hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951808, essv6798763, essv6719337, essv6865513, essv6704919, essv6759970, essv6667509
SamplesSSM061, SSM089, SSM044, SSM040, SSM072, SSM025, SSM030
Known GenesOR2B2
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)esv2731742
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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