A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746201



Internal ID18720447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1316834..1317130hg38UCSC Ensembl
Outerchr1:1316811..1317149hg38UCSC Ensembl
Innerchr1:1252214..1252510hg19UCSC Ensembl
Outerchr1:1252191..1252529hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3547454
Supporting Variants
Samples
Known GenesCPSF3L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746201
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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