A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913221



Internal ID9674564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89429173..89429903hg38UCSC Ensembl
Outerchr16:89495581..89496311hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715161
Supporting Variants
SamplesSSM015
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)essv6913221
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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