A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8835673



Internal ID13303213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148410647..148410647hg38UCSC Ensembl
Innerchr5:148410646..148410648hg38UCSC Ensembl
Outerchr5:148410587..148410697hg38UCSC Ensembl
chr5:147790210..147790210hg19UCSC Ensembl
Innerchr5:147790209..147790211hg19UCSC Ensembl
Outerchr5:147790150..147790260hg19UCSC Ensembl
chr5:147770403..147770403hg18UCSC Ensembl
Innerchr5:147770404..147770402hg18UCSC Ensembl
Outerchr5:147770343..147770453hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3398458
Supporting Variants
SamplesNA12878
Known GenesFBXO38
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8835673
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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