A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv269n100



Internal ID20151885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109681750..109703496hg38UCSC Ensembl
chr1:110224372..110246118hg19UCSC Ensembl
chr1:110025895..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3821747
hg1921747
hg1821747
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998935, nsv1002298, nsv1012200, nsv1005126, nsv999979, nsv1012726, nsv1001074, nsv1008835, nsv1004510, nsv1010250, nsv1013120, nsv1015095, nsv997730, nsv1008955, nsv997465, nsv1004507, nsv997747, nsv1004328, nsv1006797, nsv1007192, nsv1005701
Samples
Known GenesGSTM1, GSTM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv269n100
Frequency
Sample Size29084
Observed Gain1112
Observed Loss563
Observed Complex0
Frequencyn/a


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