A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765260



Internal ID18739506
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 StatusS
Merged Variantsesv3566513
Supporting Variants
Samples
Known GenesSEMA6A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765260
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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