A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768690



Internal ID9827330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21427089..21427592hg38UCSC Ensembl
Outerchr14:21895248..21895751hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748456
Supporting Variants
SamplesSSM064
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)essv6768690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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