A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765089



Internal ID9825377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136276615..136277613hg38UCSC Ensembl
Outerchr6:136597753..136598751hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732753
Supporting Variants
SamplesSSM063
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)essv6765089
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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