A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv253n100



Internal ID20151869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109613590..109700319hg38UCSC Ensembl
chr1:110156212..110242941hg19UCSC Ensembl
chr1:109957735..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3886730
hg1986730
hg1886730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000516, nsv1001424
Samples
Known GenesAMPD2, GSTM1, GSTM2, GSTM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv253n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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