A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888490



Internal ID9936613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88728401..88728728hg38UCSC Ensembl
Outerchr16:88794809..88795136hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715031
Supporting Variants
SamplesSSM096
Known GenesPIEZO1
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)essv6888490
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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