A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412652



Internal ID15259611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31962120..31963218hg38UCSC Ensembl
Innerchr17:31962218..31963120hg38UCSC Ensembl
Outerchr17:31961120..31964218hg38UCSC Ensembl
chr17:30289139..30290237hg19UCSC Ensembl
Innerchr17:30289237..30290139hg19UCSC Ensembl
Outerchr17:30288139..30291237hg19UCSC Ensembl
chr17:27313252..27314350hg18UCSC Ensembl
Innerchr17:27314252..27313350hg18UCSC Ensembl
Outerchr17:27312252..27315350hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1727e59
Supporting Variantsessv8690705
SamplesNA19240
Known GenesSUZ12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412652
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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