A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741398



Internal ID10295514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105657382..105756475hg38UCSC Ensembl
Outerchr14:106123719..106222812hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3899094
hg1999094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287e201
Supporting Variantsessv6744264
SamplesSSM053
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)esv2741398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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