A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808515



Internal ID9866052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136261474..136268146hg38UCSC Ensembl
Outerchr6:136582612..136589284hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386673
hg196673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732747
Supporting Variants
SamplesSSM075
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)essv6808515
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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