A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349225



Internal ID15196207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48292874..48292902hg38UCSC Ensembl
Innerchr13:48292884..48292890hg38UCSC Ensembl
Outerchr13:48292856..48292920hg38UCSC Ensembl
chr13:48867010..48867038hg19UCSC Ensembl
Innerchr13:48867020..48867026hg19UCSC Ensembl
Outerchr13:48866992..48867056hg19UCSC Ensembl
chr13:47765011..47765039hg18UCSC Ensembl
Innerchr13:47765027..47765021hg18UCSC Ensembl
Outerchr13:47764993..47765057hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8960385, essv8960383, essv8960384, essv8960386, essv8960382
SamplesNA18861, NA19138, NA19102, NA18505, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349225
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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