A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585360



Internal ID253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92522151..92522950hg38UCSC Ensembl
Outerchr14:92519695..92526064hg38UCSC Ensembl
Innerchr14:92988495..92989294hg19UCSC Ensembl
Outerchr14:92986039..92992408hg19UCSC Ensembl
Innerchr14:92058248..92059047hg18UCSC Ensembl
Outerchr14:92055792..92062161hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg386370
hg196370
hg186370
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275342
Supporting Variants
Samples
Known GenesRIN3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585360
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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