A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748457



Internal ID9982741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21427227..21427432hg38UCSC Ensembl
Outerchr14:21895386..21895591hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891489, essv6867476, essv6688474, essv6820003
SamplesSSM097, SSM089, SSM035, SSM078
Known GenesCHD8
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)esv2748457
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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