A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv257n100



Internal ID20151873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109650144..109707602hg38UCSC Ensembl
chr1:110192766..110250224hg19UCSC Ensembl
chr1:109994289..110051747hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3857459
hg1957459
hg1857459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007165, nsv1014168, nsv1008757, nsv1003861
Samples
Known GenesGSTM1, 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)dgv257n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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