A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691001



Internal ID15103155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72557218..72558716hg38UCSC Ensembl
Innerchr17:72557716..72558218hg38UCSC Ensembl
Outerchr17:72556218..72559716hg38UCSC Ensembl
chr17:70553357..70554855hg19UCSC Ensembl
Innerchr17:70553855..70554357hg19UCSC Ensembl
Outerchr17:70552357..70555855hg19UCSC Ensembl
chr17:68064952..68066450hg18UCSC Ensembl
Innerchr17:68065952..68065450hg18UCSC Ensembl
Outerchr17:68063952..68067450hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446195
Supporting Variants
SamplesNA19240
Known GenesLINC00673
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691001
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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