A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14e55



Internal ID22760964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208252363..208281834hg38UCSC Ensembl
chr1:208425708..208455179hg19UCSC Ensembl
chr1:206492331..206521802hg18UCSC Ensembl
chr1:204814103..204843574hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3829472
hg1929472
hg1829472
hg1729472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750826, esv2750827
SamplesBEC_520, BEC_494
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv14e55
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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