A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv862n54



Internal ID20134286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234608602..234611240hg38UCSC Ensembl
chr1:234744348..234746986hg19UCSC Ensembl
chr1:232810971..232813609hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382639
hg192639
hg182639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549383, nsv549390, nsv549387, nsv549384, nsv549385
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv862n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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