A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1e59



Internal ID22761221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11189..36787hg38UCSC Ensembl
chr1:11189..36787hg19UCSC Ensembl
chr1:1052..26650hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3825599
hg1925599
hg1825599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3364878, esv3343481
SamplesNA19239, NA12878
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, MIR6859-1, MIR6859-2, WASH7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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