A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893436



Internal ID9940888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24811672..24817723hg38UCSC Ensembl
Outerchr6:24811900..24817951hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386052
hg196052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731716
Supporting Variants
SamplesSSM098
Known GenesFAM65B
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)essv6893436
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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