A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv860n54



Internal ID20134284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234608504..234611066hg38UCSC Ensembl
chr1:234744250..234746812hg19UCSC Ensembl
chr1:232810873..232813435hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382563
hg192563
hg182563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549380, nsv549389
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv860n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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