A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715189



Internal ID9949475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89647661..89648452hg38UCSC Ensembl
Outerchr16:89714069..89714860hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858147, essv6838998, essv6901079, essv6788409
SamplesSSM010, SSM100, SSM069, SSM087
Known GenesCHMP1A
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)esv2715189
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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