A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749760



Internal ID10330730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:60816342..60816680hg38UCSC Ensembl
Outerchr15:61108541..61108879hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953675, essv6702861, essv6862890, essv6796437, essv6673835, essv6812520, essv6695999, essv6800641, essv6699033, essv6869387, essv6678231, essv6945420, essv6871045
SamplesSSM071, SSM011, SSM038, SSM039, SSM088, SSM023, SSM090, SSM032, SSM031, SSM072, SSM037, SSM076, SSM025
Known GenesRORA
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)esv2749760
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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