A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610471



Internal ID6650697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116512273..116520392hg38UCSC Ensembl
Innerchr6:116512273..116520392hg38UCSC Ensembl
Outerchr6:116512086..116520577hg38UCSC Ensembl
chr6:116833436..116841555hg19UCSC Ensembl
Innerchr6:116833436..116841555hg19UCSC Ensembl
Outerchr6:116833249..116841740hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg388120
hg198120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12511095
SamplesHG00590
Known GenesFAM26E, TRAPPC3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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