A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447432



Internal ID14947696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21399647..21418045hg38UCSC Ensembl
Innerchr17:21400647..21417045hg38UCSC Ensembl
Outerchr17:21398647..21419045hg38UCSC Ensembl
chr17:21302959..21321357hg19UCSC Ensembl
Innerchr17:21303959..21320357hg19UCSC Ensembl
Outerchr17:21301959..21322357hg19UCSC Ensembl
chr17:21243552..21261950hg18UCSC Ensembl
Innerchr17:21244552..21260950hg18UCSC Ensembl
Outerchr17:21242552..21262950hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3818399
hg1918399
hg1818399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1715e59
Supporting Variantsessv8690669
SamplesNA12891
Known GenesKCNJ12, KCNJ18
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447432
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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