A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586051



Internal ID944
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275572
Supporting Variants
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)essv2586051
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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