A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715144



Internal ID9949430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89299234..89299615hg38UCSC Ensembl
Outerchr16:89365642..89366023hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924937, essv6713546
SamplesSSM042, SSM018
Known GenesANKRD11
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)esv2715144
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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