A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741156



Internal ID10295272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105667152..105768219hg38UCSC Ensembl
Outerchr14:106133489..106234556hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101068
hg19101068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287e201
Supporting Variantsessv6717145
SamplesSSM043
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)esv2741156
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer