A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv228n100



Internal ID22786315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103678897..103725588hg38UCSC Ensembl
chr1:104221519..104268210hg19UCSC Ensembl
chr1:104023042..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3846692
hg1946692
hg1846692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000273, nsv1009471
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv228n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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