A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929529



Internal ID9641178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136269656..136273045hg38UCSC Ensembl
Outerchr6:136590794..136594183hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383390
hg193390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732749
Supporting Variants
SamplesSSM003
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)essv6929529
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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