A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913222



Internal ID9674563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89455033..89455275hg38UCSC Ensembl
Outerchr16:89521441..89521683hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715164, esv2715162
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)essv6913222
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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