A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653348



Internal ID15064706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23811311..23811311hg38UCSC Ensembl
Innerchr3:23811310..23811312hg38UCSC Ensembl
Outerchr3:23811261..23811361hg38UCSC Ensembl
chr3:23852802..23852802hg19UCSC Ensembl
Innerchr3:23852801..23852803hg19UCSC Ensembl
Outerchr3:23852752..23852852hg19UCSC Ensembl
chr3:23827806..23827806hg18UCSC Ensembl
Innerchr3:23827807..23827805hg18UCSC Ensembl
Outerchr3:23827756..23827856hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378355
Supporting Variants
SamplesNA19239
Known GenesUBE2E1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653348
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