A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818358



Internal ID9874155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136276744..136277653hg38UCSC Ensembl
Outerchr6:136597882..136598791hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732753
Supporting Variants
SamplesSSM078
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)essv6818358
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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