A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561309



Internal ID18762385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241457388..241457761hg38UCSC Ensembl
Outerchr2:241457356..241457796hg38UCSC Ensembl
Innerchr2:242396803..242397176hg19UCSC Ensembl
Outerchr2:242396771..242397211hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760056
Samples
Known GenesFARP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561309
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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