A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv120e55



Internal ID18985351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36044950..36150005hg38UCSC Ensembl
chr17:34371987..34477387hg19UCSC Ensembl
chr17:31396100..31501500hg18UCSC Ensembl
chr17:31396100..31501500hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38105056
hg19105401
hg18105401
hg17105401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751624, esv34491, esv2751623, esv2751625
SamplesBEC_397, BEC_529, NA18558, BEC_379
Known GenesCCL18, CCL3, CCL4
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)dgv120e55
Frequency
Sample Size771
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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