A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732063



Internal ID10315699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:50798235..50798569hg38UCSC Ensembl
Outerchr6:50765948..50766282hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963754, essv6826427, essv6943454, essv6855332, essv6671127, essv6818236, essv6957032, essv6865606, essv6684002, essv6849156, essv6774605, essv6814337, essv6802579, essv6701095, essv6974801, essv6893547, essv6811326
SamplesSSM027, SSM011, SSM039, SSM073, SSM023, SSM029, SSM026, SSM089, SSM031, SSM086, SSM066, SSM078, SSM080, SSM077, SSM076, SSM034, SSM098
Known Genes
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)esv2732063
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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