A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350181



Internal ID15197163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23908592..23908611hg38UCSC Ensembl
Innerchr13:23908588..23908615hg38UCSC Ensembl
Outerchr13:23908569..23908634hg38UCSC Ensembl
chr13:24482731..24482750hg19UCSC Ensembl
Innerchr13:24482727..24482754hg19UCSC Ensembl
Outerchr13:24482708..24482773hg19UCSC Ensembl
chr13:23380731..23380750hg18UCSC Ensembl
Innerchr13:23380754..23380727hg18UCSC Ensembl
Outerchr13:23380708..23380773hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9660169
SamplesNA12874
Known GenesANKRD20A19P
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350181
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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