A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826506



Internal ID9880651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136268320..136269455hg38UCSC Ensembl
Outerchr6:136589458..136590593hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732748
Supporting Variants
SamplesSSM080
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)essv6826506
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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