A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585795



Internal ID347374
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275407
Supporting Variants
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)essv2585795
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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