A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10557289



Internal ID559105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79524343..79533991hg38UCSC Ensembl
Innerchr2:79524396..79533939hg38UCSC Ensembl
Outerchr2:79524291..79534044hg38UCSC Ensembl
chr2:79751469..79761117hg19UCSC Ensembl
Innerchr2:79751522..79761065hg19UCSC Ensembl
Outerchr2:79751417..79761170hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg389649
hg199649
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591408
Supporting Variants
SamplesHG01121
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10557289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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