A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988902



Internal ID12982925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52392209..52635509hg38UCSC Ensembl
Innerchr5:51688043..51931343hg19UCSC Ensembl
Innerchr5:51723800..51967100hg18UCSC Ensembl
Innerchr5:51723800..51967100hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38243301
hg19243301
hg18243301
hg17243301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752072
Supporting Variants
SamplesSPC_121
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988902
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