A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742451



Internal ID10296567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105667196..105768196hg38UCSC Ensembl
Outerchr14:106133533..106234533hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101001
hg19101001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287e201
Supporting Variantsessv6870981
SamplesSSM090
Known GenesELK2AP
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)esv2742451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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