A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715194



Internal ID9949480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89655195..89655689hg38UCSC Ensembl
Outerchr16:89721603..89722097hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898073, essv6810855, essv6824245, essv6800898
SamplesSSM079, SSM009, SSM072, SSM099
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)esv2715194
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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