A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988913



Internal ID12983048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:35763804..35891004hg38UCSC Ensembl
Innerchr3:35805296..35932496hg19UCSC Ensembl
Innerchr3:35780300..35907500hg18UCSC Ensembl
Innerchr3:35780300..35907500hg17UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38127201
hg19127201
hg18127201
hg17127201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752002
Supporting Variants
SamplesSPC_133
Known GenesARPP21
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988913
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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