A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979363



Internal ID12633385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131326440..131532806hg38UCSC Ensembl
Innerchr12:131810985..132017351hg19UCSC Ensembl
Innerchr12:130376938..130583304hg18UCSC Ensembl
Innerchr12:130335865..130542231hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38206367
hg19206367
hg18206367
hg17206367
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979363
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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