A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415613



Internal ID15262572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212408887..212410285hg38UCSC Ensembl
Innerchr1:212409285..212409887hg38UCSC Ensembl
Outerchr1:212407887..212411285hg38UCSC Ensembl
chr1:212582229..212583627hg19UCSC Ensembl
Innerchr1:212582627..212583229hg19UCSC Ensembl
Outerchr1:212581229..212584627hg19UCSC Ensembl
chr1:210648852..210650250hg18UCSC Ensembl
Innerchr1:210649852..210649250hg18UCSC Ensembl
Outerchr1:210647852..210651250hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692120
SamplesNA19239
Known GenesTMEM206
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415613
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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