A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749506



Internal ID10330476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28590726..28833958hg38UCSC Ensembl
Outerchr15:28835872..29079104hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38243233
hg19243233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873968, essv6783955, essv6888292, essv6945386, essv6673781, essv6803764, essv6885332, essv6768797, essv6709808
SamplesSSM064, SSM073, SSM041, SSM023, SSM096, SSM031, SSM068, SSM091, SSM095
Known GenesGOLGA8M, HERC2P9, LOC100289656, LOC646278, WHAMMP2
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)esv2749506
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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