A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757924



Internal ID18385484
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 StatusS
Merged Variantsesv3559177
Supporting Variants
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757924
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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