A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398249



Internal ID15245212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20467447..20470645hg38UCSC Ensembl
Innerchr17:20468447..20469645hg38UCSC Ensembl
Outerchr17:20466447..20471645hg38UCSC Ensembl
chr17:20370760..20373958hg19UCSC Ensembl
Innerchr17:20371760..20372958hg19UCSC Ensembl
Outerchr17:20369760..20374958hg19UCSC Ensembl
chr17:20311352..20314550hg18UCSC Ensembl
Innerchr17:20312352..20313550hg18UCSC Ensembl
Outerchr17:20310352..20315550hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1711e59
Supporting Variantsessv8690654
SamplesNA19240
Known GenesLGALS9B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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