A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304831



Internal ID15151779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17700043..17700044hg38UCSC Ensembl
Innerchr9:17700016..17700071hg38UCSC Ensembl
Outerchr9:17700015..17700072hg38UCSC Ensembl
chr9:17700041..17700042hg19UCSC Ensembl
Innerchr9:17700014..17700069hg19UCSC Ensembl
Outerchr9:17700013..17700070hg19UCSC Ensembl
chr9:17690041..17690042hg18UCSC Ensembl
Innerchr9:17690069..17690014hg18UCSC Ensembl
Outerchr9:17690013..17690070hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741902, essv7749878, essv7745074, essv7757335, essv7750126, essv7741775, essv7742272, essv7748921, essv7742046, essv7747886, essv7760877, essv7762753, essv7757836, essv7745662, essv7751604, essv7746072, essv7755324, essv7742385
SamplesNA18502, NA18592, NA18545, NA18550, NA18519, NA18547, NA18571, NA18520, NA19239, NA18579, NA18572, NA18566, NA18555, NA19225, NA18570, NA18608, NA19240, NA18943
Known GenesSH3GL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304831
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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