A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660778



Internal ID9926883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234655060..234663427hg38UCSC Ensembl
chr2:235563704..235572071hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388368
hg198368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6384748, essv6470680, essv6537937
SamplesNA19383, NA19334, NA19438
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660778
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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