A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759554



Internal ID18387114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199447763..199447951hg38UCSC Ensembl
Outerchr2:199447713..199447992hg38UCSC Ensembl
Innerchr2:200312486..200312674hg19UCSC Ensembl
Outerchr2:200312436..200312715hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560807
Supporting Variants
Samples
Known GenesSATB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759554
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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