A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2975e59



Internal ID22764195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49091178..49336876hg38UCSC Ensembl
chr4:49093195..49338893hg19UCSC Ensembl
chr4:48787952..49033650hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38245699
hg19245699
hg18245699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3394480, esv3350648, esv3332716
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2975e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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