A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv248e55



Internal ID20126727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14773418..15806518hg38UCSC Ensembl
chr8:14630927..15664027hg19UCSC Ensembl
chr8:14675298..15708398hg18UCSC Ensembl
chr8:14675298..15708398hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381033101
hg191033101
hg181033101
hg171033101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34951, esv34616
SamplesNA10863, NA12234
Known GenesMIR383, SGCZ, TUSC3
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)dgv248e55
Frequency
Sample Size771
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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