A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732112



Internal ID10315748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:55476923..55477545hg38UCSC Ensembl
Outerchr6:55341721..55342343hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734369, essv6687269, essv6957042, essv6767560, essv6841280, essv6754559, essv6833808, essv6849164, essv6943460, essv6947820, essv6955929, essv6708466, essv6723257, essv6939037, essv6884257, essv6837456, essv6844975, essv6711866, essv6690486, essv6729076, essv6969400, essv6896786, essv6892154, essv6701104, essv6680416, essv6872788, essv6715555, essv6798886, essv6930460, essv6893556, essv6778225, essv6757414, essv6822462, essv6795743, essv6818247, essv6684011, essv6762659, essv6923097
SamplesSSM059, SSM036, SSM083, SSM024, SSM045, SSM064, SSM079, SSM039, SSM009, SSM042, SSM002, SSM041, SSM023, SSM058, SSM028, SSM084, SSM018, SSM062, SSM026, SSM035, SSM067, SSM001, SSM086, SSM033, SSM085, SSM072, SSM082, SSM020, SSM007, SSM078, SSM022, SSM091, SSM095, SSM034, SSM099, SSM043, SSM098, SSM049
Known GenesHMGCLL1
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)esv2732112
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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