A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688474



Internal ID9755676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21427264..21427413hg38UCSC Ensembl
Outerchr14:21895423..21895572hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748456, esv2748457
Supporting Variants
SamplesSSM035
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)essv6688474
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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