A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354715



Internal ID14854979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168817999..168818011hg38UCSC Ensembl
Innerchr5:168817993..168818015hg38UCSC Ensembl
Outerchr5:168817983..168818027hg38UCSC Ensembl
chr5:168245004..168245016hg19UCSC Ensembl
Innerchr5:168244998..168245020hg19UCSC Ensembl
Outerchr5:168244988..168245032hg19UCSC Ensembl
chr5:168177582..168177594hg18UCSC Ensembl
Innerchr5:168177598..168177576hg18UCSC Ensembl
Outerchr5:168177566..168177610hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927403, essv8927401, essv8927395, essv8927392, essv8927404, essv8927400, essv8927389, essv8927396, essv8927390, essv8927398, essv8927397, essv8927399, essv8927394, essv8927393
SamplesNA07037, NA18871, NA18516, NA19257, NA18505, NA18912, NA19190, NA07346, NA18498, NA19102, NA18522, NA18510, NA18858, NA18909
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354715
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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