A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385822



Internal ID15232792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46541973..46591271hg38UCSC Ensembl
Innerchr10:46542973..46590271hg38UCSC Ensembl
Outerchr10:46540973..46592271hg38UCSC Ensembl
chr10:46958346..47007644hg19UCSC Ensembl
Innerchr10:46959346..47006644hg19UCSC Ensembl
Outerchr10:46957346..47008644hg19UCSC Ensembl
chr10:46378352..46427650hg18UCSC Ensembl
Innerchr10:46379352..46426650hg18UCSC Ensembl
Outerchr10:46377352..46428650hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3849299
hg1949299
hg1849299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688061
SamplesNA19240
Known GenesGPRIN2, SYT15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385822
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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