A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556877



Internal ID18757953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53671704..53671888hg38UCSC Ensembl
Outerchr2:53671669..53671922hg38UCSC Ensembl
Innerchr2:53898841..53899025hg19UCSC Ensembl
Outerchr2:53898806..53899059hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755624
Samples
Known GenesASB3, GPR75-ASB3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556877
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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