A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv254n100



Internal ID20151870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109631914..109700319hg38UCSC Ensembl
chr1:110174536..110242941hg19UCSC Ensembl
chr1:109976059..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3868406
hg1968406
hg1868406
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999032, nsv1009093, nsv1011397, nsv1008513
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)dgv254n100
Frequency
Sample Size29084
Observed Gain27
Observed Loss9
Observed Complex0
Frequencyn/a


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