A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559879



Internal ID18760955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104591474..104592194hg38UCSC Ensembl
Outerchr2:104591458..104592211hg38UCSC Ensembl
Innerchr2:105207932..105208652hg19UCSC Ensembl
Outerchr2:105207916..105208669hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758626
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559879
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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