A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849285



Internal ID9901152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136278780..136279760hg38UCSC Ensembl
Outerchr6:136599918..136600898hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732759, esv2732755, esv2732760, esv2732757, esv2732758, esv2732754, esv2732756
Supporting Variants
SamplesSSM086
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)essv6849285
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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