A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591410



Internal ID6978738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79540645..79544032hg38UCSC Ensembl
Innerchr2:79540645..79544032hg38UCSC Ensembl
Outerchr2:79540499..79544178hg38UCSC Ensembl
chr2:79767771..79771158hg19UCSC Ensembl
Innerchr2:79767771..79771158hg19UCSC Ensembl
Outerchr2:79767625..79771304hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383388
hg193388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10557296
SamplesHG01461
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591410
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