A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395024



Internal ID14895302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46327822..46332223hg38UCSC Ensembl
Innerchr17:46328822..46331223hg38UCSC Ensembl
Outerchr17:46326823..46333222hg38UCSC Ensembl
chr17:44405188..44409589hg19UCSC Ensembl
Innerchr17:44406188..44408589hg19UCSC Ensembl
Outerchr17:44404189..44410588hg19UCSC Ensembl
chr17:41760952..41765350hg18UCSC Ensembl
Innerchr17:41761952..41764350hg18UCSC Ensembl
Outerchr17:41759952..41766350hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384402
hg194402
hg184399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690907
SamplesNA19238
Known GenesARL17A, ARL17B, LRRC37A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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