A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv331n54



Internal ID22768226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78893142..78954806hg38UCSC Ensembl
chr1:79358827..79420491hg19UCSC Ensembl
chr1:79131415..79193079hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3861665
hg1961665
hg1861665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546620, nsv546622
Samples
Known GenesELTD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv331n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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