A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979362



Internal ID12633384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131312575..131529575hg38UCSC Ensembl
Innerchr12:131797120..132014120hg19UCSC Ensembl
Innerchr12:130363073..130580073hg18UCSC Ensembl
Innerchr12:130322000..130539000hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38217001
hg19217001
hg18217001
hg17217001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34554
Supporting Variants
SamplesNA18537
Known GenesLOC338797
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979362
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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