A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv407n54



Internal ID20133831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103597390..103645987hg38UCSC Ensembl
chr1:104140012..104188609hg19UCSC Ensembl
chr1:103941535..103990132hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3848598
hg1948598
hg1848598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547010, nsv547029
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv407n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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