A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275243



Internal ID1463
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585647, essv2585261
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)esv275243
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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