A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982515



Internal ID12627185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67146030..67420030hg38UCSC Ensembl
Innerchr14:67612747..67886747hg19UCSC Ensembl
Innerchr14:66682500..66956500hg18UCSC Ensembl
Innerchr14:66682500..66956500hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38274001
hg19274001
hg18274001
hg17274001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751285
Supporting Variants
SamplesBEC_462
Known GenesATP6V1D, EIF2S1, FAM71D, GPHN, MPP5, PLEK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982515
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