A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690655



Internal ID15059299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20467947..20470645hg38UCSC Ensembl
Innerchr17:20468947..20469645hg38UCSC Ensembl
Outerchr17:20466947..20471645hg38UCSC Ensembl
chr17:20371260..20373958hg19UCSC Ensembl
Innerchr17:20372260..20372958hg19UCSC Ensembl
Outerchr17:20370260..20374958hg19UCSC Ensembl
chr17:20311852..20314550hg18UCSC Ensembl
Innerchr17:20312852..20313550hg18UCSC Ensembl
Outerchr17:20310852..20315550hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3418727
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690655
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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