A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752623



Internal ID18380183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88741730..88741889hg38UCSC Ensembl
Outerchr16:88741689..88741928hg38UCSC Ensembl
Innerchr16:88808138..88808297hg19UCSC Ensembl
Outerchr16:88808097..88808336hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553876
Supporting Variants
Samples
Known GenesPIEZO1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752623
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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