A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830263



Internal ID9884034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136268333..136269461hg38UCSC Ensembl
Outerchr6:136589471..136590599hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732748
Supporting Variants
SamplesSSM081
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)essv6830263
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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