A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746019



Internal ID9808760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136261465..136268163hg38UCSC Ensembl
Outerchr6:136582603..136589301hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386699
hg196699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732747
Supporting Variants
SamplesSSM055
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)essv6746019
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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