A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585261



Internal ID154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29243101..29246122hg38UCSC Ensembl
Outerchr22:29242481..29246376hg38UCSC Ensembl
Innerchr22:29639090..29642111hg19UCSC Ensembl
Outerchr22:29638470..29642365hg19UCSC Ensembl
Innerchr22:27969090..27972111hg18UCSC Ensembl
Outerchr22:27968470..27972365hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383896
hg193896
hg183896
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275243
Supporting Variants
Samples
Known GenesEMID1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585261
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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