A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748799



Internal ID9983083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65882876..65883242hg38UCSC Ensembl
Outerchr14:66349594..66349960hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768725, essv6774742
SamplesSSM008, SSM064
Known Genes
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)esv2748799
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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