A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv226n100



Internal ID20151842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103614527..103766510hg38UCSC Ensembl
chr1:104157149..104309132hg19UCSC Ensembl
chr1:103958672..104110655hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38151984
hg19151984
hg18151984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006321, nsv1000330, nsv1002781, nsv1014889, nsv997803, nsv1009054
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv226n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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