A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303026



Internal ID15149974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9809070..9809278hg38UCSC Ensembl
Innerchr18:9809170..9809178hg38UCSC Ensembl
Outerchr18:9808970..9809378hg38UCSC Ensembl
chr18:9809067..9809275hg19UCSC Ensembl
Innerchr18:9809167..9809175hg19UCSC Ensembl
Outerchr18:9808967..9809375hg19UCSC Ensembl
chr18:9799067..9799275hg18UCSC Ensembl
Innerchr18:9799167..9799175hg18UCSC Ensembl
Outerchr18:9798967..9799375hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1849e59
Supporting Variantsessv7734372, essv7738271, essv7737077, essv7732967, essv7738870, essv7734505, essv7735682, essv7735436, essv7733813, essv7733734, essv7738619, essv7737250, essv7733220, essv7733569, essv7739195, essv7737789, essv7733434, essv7734256, essv7735784, essv7736768, essv7739004, essv7734448, essv7731916, essv7736999, essv7736560, essv7738655, essv7733685, essv7738555, essv7732432, essv7734471, essv7738014, essv7732628, essv7735086, essv7734735, essv7737579, essv7737976, essv7737778, essv7734806, essv7738840, essv7732950, essv7734862, essv7734351, essv7737385, essv7731753, essv7738069, essv7733989, essv7733381, essv7734959, essv7738278
SamplesNA12717, NA11829, NA18861, NA18603, NA12045, NA12751, NA12004, NA12750, NA07346, NA18563, NA19005, NA18944, NA18940, NA12891, NA18558, NA18571, NA12287, NA19138, NA18964, NA19238, NA11994, NA18638, NA11993, NA18951, NA12878, NA18956, NA18579, NA18572, NA18566, NA18573, NA18499, NA12249, NA12892, NA19225, NA18858, NA18593, NA18945, NA18576, NA12043, NA18952, NA19147, NA19240, NA07051, NA18609, NA12006, NA07000, NA12154, NA12776, NA18965
Known GenesRAB31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303026
Frequency
Sample Size185
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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