A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565578



Internal ID18766654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16535627..16536575hg38UCSC Ensembl
Outerchr5:16535430..16536617hg38UCSC Ensembl
Innerchr5:16535736..16536684hg19UCSC Ensembl
Outerchr5:16535539..16536726hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764325
Samples
Known GenesFAM134B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565578
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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