A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431180



Internal ID14931450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124988293..124989691hg38UCSC Ensembl
Innerchr10:124988691..124989293hg38UCSC Ensembl
Outerchr10:124987293..124990691hg38UCSC Ensembl
chr10:126676862..126678260hg19UCSC Ensembl
Innerchr10:126677260..126677862hg19UCSC Ensembl
Outerchr10:126675862..126679260hg19UCSC Ensembl
chr10:126666852..126668250hg18UCSC Ensembl
Innerchr10:126667852..126667250hg18UCSC Ensembl
Outerchr10:126665852..126669250hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv519e59
Supporting Variantsessv8687899
SamplesNA12878
Known GenesCTBP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431180
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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