A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978214



Internal ID12634920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45254982..45483582hg38UCSC Ensembl
Innerchr22:45650863..45879463hg19UCSC Ensembl
Innerchr22:44029527..44258127hg18UCSC Ensembl
Innerchr22:43971400..44200000hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38228601
hg19228601
hg18228601
hg17228601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34218
Supporting Variants
SamplesNA18980
Known GenesFAM118A, RIBC2, SMC1B, UPK3A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978214
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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