A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422217



Internal ID15269175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12850379..12850392hg38UCSC Ensembl
Innerchr17:12850378..12850393hg38UCSC Ensembl
Outerchr17:12850365..12850406hg38UCSC Ensembl
chr17:12753696..12753709hg19UCSC Ensembl
Innerchr17:12753695..12753710hg19UCSC Ensembl
Outerchr17:12753682..12753723hg19UCSC Ensembl
chr17:12694421..12694434hg18UCSC Ensembl
Innerchr17:12694435..12694420hg18UCSC Ensembl
Outerchr17:12694407..12694448hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8971057, essv8971067, essv8971065, essv8971058, essv8971066, essv8971063, essv8971060, essv8971061, essv8971064, essv8971068, essv8971062
SamplesNA18502, NA18603, NA18526, NA18498, NA18956, NA18572, NA18566, NA18542, NA18501, NA18609, NA18552
Known GenesARHGAP44
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422217
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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