A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444693



Internal ID14944959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46327922..46330923hg38UCSC Ensembl
Innerchr17:46328922..46329923hg38UCSC Ensembl
Outerchr17:46326923..46331923hg38UCSC Ensembl
chr17:44405288..44408289hg19UCSC Ensembl
Innerchr17:44406288..44407289hg19UCSC Ensembl
Outerchr17:44404289..44409289hg19UCSC Ensembl
chr17:41761052..41764050hg18UCSC Ensembl
Innerchr17:41762052..41763050hg18UCSC Ensembl
Outerchr17:41760052..41765050hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383002
hg193002
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690909
SamplesNA12892
Known GenesARL17A, ARL17B, LRRC37A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444693
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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