A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv863n54



Internal ID20134287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234608891..234609525hg38UCSC Ensembl
chr1:234744637..234745271hg19UCSC Ensembl
chr1:232811260..232811894hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38635
hg19635
hg18635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549388, nsv549386
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv863n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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