A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1715e59



Internal ID22762935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21397747..21418045hg38UCSC Ensembl
chr17:21301059..21321357hg19UCSC Ensembl
chr17:21241652..21261950hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3820299
hg1920299
hg1820299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3442337, esv3447432, esv3427552, esv3352378, esv3428764
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known GenesKCNJ12, KCNJ18
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1715e59
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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