A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343705



Internal ID15190690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46087768..46192907hg38UCSC Ensembl
Innerchr17:46088768..46191907hg38UCSC Ensembl
Outerchr17:46086768..46193907hg38UCSC Ensembl
chr17:44165134..44270273hg19UCSC Ensembl
Innerchr17:44166134..44269273hg19UCSC Ensembl
Outerchr17:44164134..44271273hg19UCSC Ensembl
chr17:41520952..41626050hg18UCSC Ensembl
Innerchr17:41521952..41625050hg18UCSC Ensembl
Outerchr17:41519952..41627050hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38105140
hg19105140
hg18105099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1765e59
Supporting Variantsessv8690877
SamplesNA12891
Known GenesKANSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343705
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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