A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275407



Internal ID348313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222485282..222486741hg38UCSC Ensembl
Outerchr2:222484854..222487540hg38UCSC Ensembl
Innerchr2:223350001..223351460hg19UCSC Ensembl
Outerchr2:223349573..223352259hg19UCSC Ensembl
Innerchr2:223058245..223059704hg18UCSC Ensembl
Outerchr2:223057817..223060503hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382687
hg192687
hg182687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585795
Samples
Known GenesSGPP2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275407
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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