A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660580



Internal ID9926685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80377682..80384812hg38UCSC Ensembl
chr4:81298836..81305966hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg387131
hg197131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5865099
SamplesHG01070
Known GenesC4orf22
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660580
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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