A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715031



Internal ID9949316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88728401..88728743hg38UCSC Ensembl
Outerchr16:88794809..88795151hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703076, essv6728889, essv6966769, essv6888490, essv6725092, essv6843080, essv6800886
SamplesSSM027, SSM084, SSM072, SSM039, SSM045, SSM046, SSM096
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)esv2715031
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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