A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737035



Internal ID9800128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136276475..136277496hg38UCSC Ensembl
Outerchr6:136597613..136598634hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732753
Supporting Variants
SamplesSSM050
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)essv6737035
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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