A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761923



Internal ID18736169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222752..196224302hg38UCSC Ensembl
Outerchr3:196222370..196224477hg38UCSC Ensembl
Innerchr3:195949623..195951173hg19UCSC Ensembl
Outerchr3:195949241..195951348hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382108
hg192108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563176
Supporting Variants
Samples
Known GenesSLC51A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761923
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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