A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697999



Internal ID9765757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136269613..136273068hg38UCSC Ensembl
Outerchr6:136590751..136594206hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383456
hg193456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732749
Supporting Variants
SamplesSSM038
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)essv6697999
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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