A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978932



Internal ID12979349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31860199..31910099hg38UCSC Ensembl
Innerchr12:32013133..32063033hg19UCSC Ensembl
Innerchr12:31904400..31954300hg18UCSC Ensembl
Innerchr12:31904400..31954300hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3849901
hg1949901
hg1849901
hg1749901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34926
Supporting Variants
SamplesNA12763
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978932
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer