A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554570



Internal ID18755646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:55386326..55387853hg38UCSC Ensembl
Outerchr17:55385946..55388093hg38UCSC Ensembl
Innerchr17:53463687..53465214hg19UCSC Ensembl
Outerchr17:53463307..53465454hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753317
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554570
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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