A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1765e59



Internal ID22762985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46087768..46224807hg38UCSC Ensembl
chr17:44165134..44302173hg19UCSC Ensembl
chr17:41520952..41657950hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38137040
hg19137040
hg18136999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3343705, esv3381985
SamplesNA12891, NA12878
Known GenesKANSL1, KANSL1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1765e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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