A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586772



Internal ID6627082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89719512..89859444hg38UCSC Ensembl
chr1:90185071..90325003hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38139933
hg19139933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10011481
SamplesHG03112
Known GenesLRRC8C, LRRC8D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586772
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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