A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2974e59



Internal ID22764194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49091178..49204376hg38UCSC Ensembl
chr4:49093195..49206393hg19UCSC Ensembl
chr4:48787952..48901150hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38113199
hg19113199
hg18113199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3386579, esv3375539, esv3335041
SamplesNA12891, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2974e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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