A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979365



Internal ID12633387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131634225..131749225hg38UCSC Ensembl
Innerchr12:132118770..132233770hg19UCSC Ensembl
Innerchr12:130684723..130799723hg18UCSC Ensembl
Innerchr12:130785000..130900000hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38115001
hg19115001
hg18115001
hg17115001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34554
Supporting Variants
SamplesNA18537
Known GenesSFSWAP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979365
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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