A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987193



Internal ID12636328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197912819..198073819hg38UCSC Ensembl
Innerchr3:197639690..197800690hg19UCSC Ensembl
Innerchr3:199124087..199285087hg18UCSC Ensembl
Innerchr3:199128000..199289000hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38161001
hg19161001
hg18161001
hg17161001
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)essv6987193
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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