A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554644



Internal ID18409034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33057076..33057274hg38UCSC Ensembl
Outerchr2:33057075..33057278hg38UCSC Ensembl
Innerchr2:33282143..33282341hg19UCSC Ensembl
Outerchr2:33282142..33282345hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753391
Samples
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554644
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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