A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741273



Internal ID10295389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:116505774..116506246hg38UCSC Ensembl
Outerchr10:118265286..118265758hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771812, essv6965358, essv6795767, essv6931561, essv6749491, essv6896954, essv6769586, essv6705989, essv6803307, essv6834667, essv6740845, essv6746637, essv6736488, essv6838370, essv6884918, essv6752392, essv6873495, essv6842195, essv6791583, essv6958822
SamplesSSM008, SSM083, SSM071, SSM027, SSM065, SSM073, SSM057, SSM084, SSM026, SSM040, SSM082, SSM020, SSM007, SSM091, SSM055, SSM070, SSM095, SSM052, SSM056, SSM012
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)esv2741273
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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