A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552988



Internal ID18754064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:15679005..15679205hg38UCSC Ensembl
Outerchr2:15678997..15679226hg38UCSC Ensembl
Innerchr2:15819129..15819329hg19UCSC Ensembl
Outerchr2:15819121..15819350hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751735
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552988
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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