A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441083



Internal ID15288036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113056337..113058635hg38UCSC Ensembl
Innerchr13:113057337..113057635hg38UCSC Ensembl
Outerchr13:113055337..113059635hg38UCSC Ensembl
chr13:113710651..113712949hg19UCSC Ensembl
Innerchr13:113711651..113711949hg19UCSC Ensembl
Outerchr13:113709651..113713949hg19UCSC Ensembl
chr13:112758652..112760950hg18UCSC Ensembl
Innerchr13:112759652..112759950hg18UCSC Ensembl
Outerchr13:112757652..112761950hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688813
SamplesNA19240
Known GenesMCF2L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441083
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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