A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392219



Internal ID15239184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15464513..15465811hg38UCSC Ensembl
Innerchr17:15464811..15465513hg38UCSC Ensembl
Outerchr17:15463513..15466811hg38UCSC Ensembl
chr17:15367827..15369125hg19UCSC Ensembl
Innerchr17:15368125..15368827hg19UCSC Ensembl
Outerchr17:15366827..15370125hg19UCSC Ensembl
chr17:15308552..15309850hg18UCSC Ensembl
Innerchr17:15309552..15308850hg18UCSC Ensembl
Outerchr17:15307552..15310850hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1694e59
Supporting Variantsessv8690532
SamplesNA19240
Known GenesCDRT4, TVP23C-CDRT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392219
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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