A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732762



Internal ID9967083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136279864..136289701hg38UCSC Ensembl
Outerchr6:136601002..136610839hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg389838
hg199838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1018e201
Supporting Variantsessv6865713, essv6701191, essv6730972, essv6811407, essv6684081, essv6679621, essv6841351, essv6969466, essv6790606, essv6881507, essv6962151, essv6778296, essv6918930, essv6860989, essv6798965, essv6671257, essv6943542, essv6887091, essv6698000, essv6782309, essv6833869, essv6822531, essv6723320, essv6872851, essv6930544, essv6715627
SamplesSSM045, SSM079, SSM038, SSM039, SSM088, SSM023, SSM028, SSM084, SSM047, SSM096, SSM089, SSM017, SSM094, SSM031, SSM067, SSM068, SSM072, SSM082, SSM020, SSM005, SSM076, SSM091, SSM070, SSM034, SSM004, SSM043
Known GenesBCLAF1
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)esv2732762
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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