A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749910



Internal ID9984194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77915730..77916135hg38UCSC Ensembl
Outerchr15:78208072..78208477hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713369, essv6966489, essv6709846, essv6913009, essv6888325, essv6748153, essv6702883
SamplesSSM027, SSM039, SSM042, SSM041, SSM096, SSM001, SSM015
Known GenesLOC645752
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)esv2749910
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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