A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415368



Internal ID14915641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113824020..113824518hg38UCSC Ensembl
Innerchr13:113824019..113824519hg38UCSC Ensembl
Outerchr13:113823020..113825518hg38UCSC Ensembl
chr13:114526993..114527491hg19UCSC Ensembl
Innerchr13:114526992..114527492hg19UCSC Ensembl
Outerchr13:114525993..114528491hg19UCSC Ensembl
chr13:113586452..113586950hg18UCSC Ensembl
Innerchr13:113586951..113586451hg18UCSC Ensembl
Outerchr13:113585452..113587950hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1135e59
Supporting Variantsessv8688844
SamplesNA19239
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415368
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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