A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679621



Internal ID9648109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136280090..136289631hg38UCSC Ensembl
Outerchr6:136601228..136610769hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg389542
hg199542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732762
Supporting Variants
SamplesSSM005
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)essv6679621
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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