A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275572



Internal ID1792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25790631..25798974hg38UCSC Ensembl
Outerchr22:25790408..25799270hg38UCSC Ensembl
Innerchr22:26186598..26194941hg19UCSC Ensembl
Outerchr22:26186375..26195237hg19UCSC Ensembl
Innerchr22:24516598..24524941hg18UCSC Ensembl
Outerchr22:24516375..24525237hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg388863
hg198863
hg188863
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586051, essv2585744
Samples
Known GenesMIR1302-1, MYO18B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275572
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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