A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987094



Internal ID12974186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7963472hg38UCSC Ensembl
Innerchr12:8017478..8116068hg19UCSC Ensembl
Innerchr12:7908745..8007335hg18UCSC Ensembl
Innerchr12:7908745..8007335hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898591
hg1998591
hg1898591
hg1798591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751115
Supporting Variants
SamplesBEC_505
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987094
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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