A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928202



Internal ID9690779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104585474..104585987hg38UCSC Ensembl
Outerchr14:105051811..105052324hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749223
Supporting Variants
SamplesSSM019
Known GenesC14orf180
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)essv6928202
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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