A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839244



Internal ID9892304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88053462..88054177hg38UCSC Ensembl
Outerchr16:88087068..88087783hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714954
Supporting Variants
SamplesSSM083
Known GenesBANP
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)essv6839244
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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