A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559956



Internal ID18761032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113457373..113457453hg38UCSC Ensembl
chr2:114214950..114215030hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758703
Samples
Known GenesCBWD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559956
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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