A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19e59



Internal ID22761239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2630153..2631351hg38UCSC Ensembl
chr1:2561592..2562790hg19UCSC Ensembl
chr1:2551452..2552650hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3399585, esv3368203
SamplesNA19239, NA19240
Known GenesMMEL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv19e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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