A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742742



Internal ID9652508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72054847..72063429hg38UCSC Ensembl
Outerchr16:72088746..72097328hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg388583
hg198583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714685, esv2714683
Supporting Variants
SamplesSSM007
Known GenesHP, HPR
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)essv6742742
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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