A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566513



Internal ID18767589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116558456..116558716hg38UCSC Ensembl
Outerchr5:116558419..116558796hg38UCSC Ensembl
Innerchr5:115894152..115894412hg19UCSC Ensembl
Outerchr5:115894115..115894492hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765260
Samples
Known GenesSEMA6A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566513
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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