A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912853



Internal ID9674896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21427171..21427801hg38UCSC Ensembl
Outerchr14:21895330..21895960hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748456
Supporting Variants
SamplesSSM015
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)essv6912853
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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