A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591411



Internal ID6978739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79551135..79554504hg38UCSC Ensembl
Innerchr2:79551150..79554490hg38UCSC Ensembl
Outerchr2:79551121..79554519hg38UCSC Ensembl
chr2:79778261..79781630hg19UCSC Ensembl
Innerchr2:79778276..79781616hg19UCSC Ensembl
Outerchr2:79778247..79781645hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10557297
SamplesHG00141
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591411
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