A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302906



Internal ID15149854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5232349..5232454hg38UCSC Ensembl
Innerchr17:5232401..5232401hg38UCSC Ensembl
Outerchr17:5232249..5232554hg38UCSC Ensembl
chr17:5135644..5135749hg19UCSC Ensembl
Innerchr17:5135696..5135696hg19UCSC Ensembl
Outerchr17:5135544..5135849hg19UCSC Ensembl
chr17:5076368..5076473hg18UCSC Ensembl
Innerchr17:5076420..5076420hg18UCSC Ensembl
Outerchr17:5076268..5076573hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737431, essv7732220, essv7732448, essv7738724, essv7735914, essv7733003, essv7733249, essv7736692, essv7736331, essv7738437, essv7733850, essv7737124, essv7736778, essv7734183
SamplesNA18592, NA18508, NA18603, NA12004, NA18526, NA18558, NA18582, NA18571, NA18949, NA19137, NA19114, NA18912, NA18501, NA18562
Known GenesLOC100130950, SCIMP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302906
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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