A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749151



Internal ID9983435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102813071..102813202hg38UCSC Ensembl
Outerchr14:103279408..103279539hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977831, essv6775042, essv6713269, essv6945310
SamplesSSM042, SSM029, SSM023, SSM008
Known GenesTRAF3
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)esv2749151
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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