A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv219n100



Internal ID20151835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103585702..103718572hg38UCSC Ensembl
chr1:104128324..104261194hg19UCSC Ensembl
chr1:103929847..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38132871
hg19132871
hg18132871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000715, nsv1013912
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)dgv219n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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