A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732902



Internal ID10316538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151499477..151499695hg38UCSC Ensembl
Outerchr6:151820612..151820830hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869862, essv6782318, essv6887103, essv6939125, essv6849303, essv6694273, essv6926910, essv6687346
SamplesSSM090, SSM096, SSM019, SSM035, SSM086, SSM068, SSM037, SSM022
Known GenesCCDC170
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)esv2732902
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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