A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306010



Internal ID14806272
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 StatusM
Merged Variants
Supporting Variantsessv7828851, essv7776275, essv7789292, essv7797549, essv7820604, essv7815192, essv7799291, essv7808442, essv7780612, essv7828619, essv7795726, essv7787500, essv7799980, essv7809457, essv7821598, essv7802510, essv7772426, essv7833655, essv7771166, essv7835767
SamplesNA12814, NA11920, NA12045, NA12751, NA07357, NA07346, NA12812, NA11992, NA12761, NA18973, NA12003, NA18579, NA11919, NA11840, NA12249, NA12144, NA12716, NA11881, NA12763, NA12776
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306010
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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