A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747088



Internal ID9807800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99520154..99520776hg38UCSC Ensembl
Outerchr14:99986491..99987113hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749100
Supporting Variants
SamplesSSM055
Known GenesCCDC85C
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)essv6747088
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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