A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715418



Internal ID10299054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:101188153..101193393hg38UCSC Ensembl
Outerchr1:101653709..101658949hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385241
hg195241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689319, essv6836259, essv6722069, essv6686215, essv6968006, essv6703916, essv6950829, essv6914058, essv6917351, essv6925762, essv6898670, essv6738880, essv6725925
SamplesSSM100, SSM036, SSM083, SSM045, SSM046, SSM028, SSM019, SSM035, SSM003, SSM040, SSM016, SSM004, SSM052
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)esv2715418
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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