A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275480



Internal ID1700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90082618..90084036hg38UCSC Ensembl
Outerchr14:90081687..90084447hg38UCSC Ensembl
Innerchr14:90548962..90550380hg19UCSC Ensembl
Outerchr14:90548031..90550791hg19UCSC Ensembl
Innerchr14:89618715..89620133hg18UCSC Ensembl
Outerchr14:89617784..89620544hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382761
hg192761
hg182761
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586035, essv2585614
Samples
Known GenesKCNK13
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275480
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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