A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554235



Internal ID18408625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19668598..19668935hg38UCSC Ensembl
Outerchr17:19668577..19669018hg38UCSC Ensembl
Innerchr17:19571911..19572248hg19UCSC Ensembl
Outerchr17:19571890..19572331hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752982
Samples
Known GenesALDH3A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554235
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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