A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591417



Internal ID6978745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80007040..80032968hg38UCSC Ensembl
Innerchr2:80007540..80032468hg38UCSC Ensembl
Outerchr2:80006040..80033968hg38UCSC Ensembl
chr2:80234166..80260094hg19UCSC Ensembl
Innerchr2:80234666..80259594hg19UCSC Ensembl
Outerchr2:80233166..80261094hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3825929
hg1925929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10557550
SamplesHG01973
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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