A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982041



Internal ID12974344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117188906..117374756hg38UCSC Ensembl
Innerchr2:117946482..118132332hg19UCSC Ensembl
Innerchr2:117662952..117848802hg18UCSC Ensembl
Innerchr2:117662712..117848562hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38185851
hg19185851
hg18185851
hg17185851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751818
Supporting Variants
SamplesBEC_515
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982041
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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