A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986061



Internal ID12971905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68053211..68367839hg38UCSC Ensembl
Innerchr3:68102361..68416989hg19UCSC Ensembl
Innerchr3:68185051..68499679hg18UCSC Ensembl
Innerchr3:68185051..68499679hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38314629
hg19314629
hg18314629
hg17314629
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)essv6986061
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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