A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980117



Internal ID12634601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75600960..75679846hg38UCSC Ensembl
Innerchr2:75828086..75906972hg19UCSC Ensembl
Innerchr2:75681594..75760480hg18UCSC Ensembl
Innerchr2:75739741..75818627hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3878887
hg1978887
hg1878887
hg1778887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35142
Supporting Variants
SamplesNA18956
Known GenesGCFC2, MRPL19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980117
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