A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275100



Internal ID1320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:26478524..26478782hg38UCSC Ensembl
Outerchr4:26477165..26481662hg38UCSC Ensembl
Innerchr4:26480146..26480404hg19UCSC Ensembl
Outerchr4:26478787..26483284hg19UCSC Ensembl
Innerchr4:26089244..26089502hg18UCSC Ensembl
Outerchr4:26087885..26092382hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384498
hg194498
hg184498
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585382, essv2585207
Samples
Known GenesCCKAR
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275100
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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