A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv419n54



Internal ID20133843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103611243..103640656hg38UCSC Ensembl
chr1:104153865..104183278hg19UCSC Ensembl
chr1:103955388..103984801hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3829414
hg1929414
hg1829414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547056, nsv547057
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv419n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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