A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5638120



Internal ID8615523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999395..33002225hg38UCSC Ensembl
chr2:33224462..33227292hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382831
hg192831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667427
Supporting Variants
SamplesHG00277
Known GenesLTBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5638120
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