A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348757



Internal ID15195739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43837648..43837659hg38UCSC Ensembl
Innerchr13:43837643..43837664hg38UCSC Ensembl
Outerchr13:43837632..43837675hg38UCSC Ensembl
chr13:44411784..44411795hg19UCSC Ensembl
Innerchr13:44411779..44411800hg19UCSC Ensembl
Outerchr13:44411768..44411811hg19UCSC Ensembl
chr13:43309784..43309795hg18UCSC Ensembl
Innerchr13:43309800..43309779hg18UCSC Ensembl
Outerchr13:43309768..43309811hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672620, essv8672622
SamplesNA19239, NA19240
Known GenesCCDC122
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348757
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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