A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv59e55



Internal ID22761009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7864877..7989987hg38UCSC Ensembl
chr12:8017473..8142583hg19UCSC Ensembl
chr12:7908740..8033850hg18UCSC Ensembl
chr12:7908740..8033850hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38125111
hg19125111
hg18125111
hg17125111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751119, esv2751117, esv2751120, esv2751116, esv2751123, esv2751115
SamplesBEC_527, SPC_129, BEC_768, NA18555, BEC_175, BEC_505
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv59e55
Frequency
Sample Size771
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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