A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610779



Internal ID6997696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129940990..129977657hg38UCSC Ensembl
chr6:130262135..130298802hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3836668
hg1936668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12546260, essv12546259
SamplesHG03873, HG03998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610779
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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