A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431783



Internal ID15278739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222152687..222153885hg38UCSC Ensembl
Innerchr1:222152885..222153687hg38UCSC Ensembl
Outerchr1:222151687..222154885hg38UCSC Ensembl
chr1:222326029..222327227hg19UCSC Ensembl
Innerchr1:222326227..222327029hg19UCSC Ensembl
Outerchr1:222325029..222328227hg19UCSC Ensembl
chr1:220392652..220393850hg18UCSC Ensembl
Innerchr1:220393652..220392850hg18UCSC Ensembl
Outerchr1:220391652..220394850hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692125
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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