A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715179



Internal ID9949465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89588087..89588203hg38UCSC Ensembl
Outerchr16:89654495..89654611hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960310, essv6867911, essv6858146
SamplesSSM089, SSM087, SSM026
Known GenesCPNE7
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)esv2715179
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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