A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357110



Internal ID14857373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204316743..204316743hg38UCSC Ensembl
Innerchr1:204316742..204316744hg38UCSC Ensembl
Outerchr1:204316693..204316793hg38UCSC Ensembl
chr1:204285871..204285871hg19UCSC Ensembl
Innerchr1:204285870..204285872hg19UCSC Ensembl
Outerchr1:204285821..204285921hg19UCSC Ensembl
chr1:202552494..202552494hg18UCSC Ensembl
Innerchr1:202552495..202552493hg18UCSC Ensembl
Outerchr1:202552444..202552544hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653204, essv8653203, essv8653205
SamplesNA12892, NA12891, NA12878
Known GenesPLEKHA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357110
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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