A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787500



Internal ID13080046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31515456..31515457hg38UCSC Ensembl
Innerchr17:31515438..31515475hg38UCSC Ensembl
Outerchr17:31515437..31515476hg38UCSC Ensembl
chr17:29842474..29842475hg19UCSC Ensembl
Innerchr17:29842456..29842493hg19UCSC Ensembl
Outerchr17:29842455..29842494hg19UCSC Ensembl
chr17:26866594..26866595hg18UCSC Ensembl
Innerchr17:26866613..26866576hg18UCSC Ensembl
Outerchr17:26866575..26866614hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306010
Supporting Variants
SamplesNA12249
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787500
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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