A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401229



Internal ID15248192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124141839..124141839hg38UCSC Ensembl
Innerchr8:124141838..124141840hg38UCSC Ensembl
Outerchr8:124141789..124141889hg38UCSC Ensembl
chr8:125154080..125154080hg19UCSC Ensembl
Innerchr8:125154079..125154081hg19UCSC Ensembl
Outerchr8:125154030..125154130hg19UCSC Ensembl
chr8:125223261..125223261hg18UCSC Ensembl
Innerchr8:125223262..125223260hg18UCSC Ensembl
Outerchr8:125223211..125223311hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701515
SamplesNA12878
Known GenesFER1L6-AS2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401229
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