A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv861n54



Internal ID20134285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234608602..234610528hg38UCSC Ensembl
chr1:234744348..234746274hg19UCSC Ensembl
chr1:232810971..232812897hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381927
hg191927
hg181927
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549382, nsv549381
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv861n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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