A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559177



Internal ID18413567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80017888..80017943hg38UCSC Ensembl
chr2:80245014..80245069hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757924
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559177
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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