A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732109



Internal ID10315745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:55442759..55443364hg38UCSC Ensembl
Outerchr6:55307557..55308162hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754558, essv6963767, essv6869770, essv6745951, essv6974813, essv6855261, essv6915098
SamplesSSM027, SSM087, SSM058, SSM090, SSM029, SSM016, SSM055
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)esv2732109
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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