A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310565



Internal ID15157516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98443878..98443878hg38UCSC Ensembl
Outerchr13:98443878..98443878hg38UCSC Ensembl
Innerchr13:99096132..99096132hg19UCSC Ensembl
Outerchr13:99096132..99096132hg19UCSC Ensembl
Innerchr13:97894133..97894133hg18UCSC Ensembl
Outerchr13:97894133..97894133hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843389
SamplesNA12878
Known GenesFARP1
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310565
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer