A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714701



Internal ID3265197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:74751067..74753598hg38UCSC Ensembl
Outerchr16:74784965..74787496hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg382532
hg192532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879899
SamplesSSM093
Known GenesFA2H
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)esv2714701
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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