A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980741



Internal ID12971906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68053260..68364160hg38UCSC Ensembl
Innerchr3:68102410..68413310hg19UCSC Ensembl
Innerchr3:68185100..68496000hg18UCSC Ensembl
Innerchr3:68185100..68496000hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38310901
hg19310901
hg18310901
hg17310901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752014
Supporting Variants
SamplesBEC_126
Known GenesFAM19A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980741
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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