A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552211



Internal ID18753287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8556277..8556365hg38UCSC Ensembl
chr2:8696407..8696495hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750958
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552211
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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