A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732111



Internal ID10315747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:55442972..55443175hg38UCSC Ensembl
Outerchr6:55307770..55307973hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974813, essv6855261, essv6915098
SamplesSSM087, SSM029, SSM016
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)esv2732111
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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