A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv58e55



Internal ID22761008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7801455..7987805hg38UCSC Ensembl
chr12:7954051..8140401hg19UCSC Ensembl
chr12:7845318..8031668hg18UCSC Ensembl
chr12:7845318..8031668hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38186351
hg19186351
hg18186351
hg17186351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34692, esv34839, esv2751113, esv34438, esv34279, esv34531
SamplesNA18998, NA18621, NA19092, NA12760, NA18991, BEC_615
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)dgv58e55
Frequency
Sample Size771
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer