A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990521



Internal ID12971899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68042729..68359172hg38UCSC Ensembl
Innerchr3:68091879..68408322hg19UCSC Ensembl
Innerchr3:68174569..68491012hg18UCSC Ensembl
Innerchr3:68174569..68491012hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38316444
hg19316444
hg18316444
hg17316444
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990521
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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