A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984997



Internal ID12983858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7871766..8037610hg38UCSC Ensembl
Innerchr12:8024362..8190206hg19UCSC Ensembl
Innerchr12:7915629..8081473hg18UCSC Ensembl
Innerchr12:7915629..8081473hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38165845
hg19165845
hg18165845
hg17165845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751118
Supporting Variants
SamplesSPC_3
Known GenesFOXJ2, SLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984997
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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