A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985254



Internal ID12636325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197912956..198073373hg38UCSC Ensembl
Innerchr3:197639827..197800244hg19UCSC Ensembl
Innerchr3:199124224..199284641hg18UCSC Ensembl
Innerchr3:199128137..199288554hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38160418
hg19160418
hg18160418
hg17160418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751989
Supporting Variants
SamplesSPC_13
Known GenesANKRD18DP, IQCG, LMLN, RPL35A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985254
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