A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692190



Internal ID13327923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236713529..236715127hg38UCSC Ensembl
Innerchr1:236714127..236714529hg38UCSC Ensembl
Outerchr1:236712529..236716127hg38UCSC Ensembl
chr1:236876829..236878427hg19UCSC Ensembl
Innerchr1:236877427..236877829hg19UCSC Ensembl
Outerchr1:236875829..236879427hg19UCSC Ensembl
chr1:234943452..234945050hg18UCSC Ensembl
Innerchr1:234944452..234944050hg18UCSC Ensembl
Outerchr1:234942452..234946050hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337760
Supporting Variants
SamplesNA12878
Known GenesACTN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692190
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