A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945309



Internal ID9702999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101885247..101885658hg38UCSC Ensembl
Outerchr14:102351584..102351995hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749146
Supporting Variants
SamplesSSM023
Known GenesPPP2R5C
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)essv6945309
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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