A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715146



Internal ID9949432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89306513..89306837hg38UCSC Ensembl
Outerchr16:89372921..89373245hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815978, essv6717413, essv6710000
SamplesSSM043, SSM041, SSM077
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)esv2715146
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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