A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556966



Internal ID18411356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54466402..54466601hg38UCSC Ensembl
Outerchr2:54466351..54466639hg38UCSC Ensembl
Innerchr2:54693539..54693738hg19UCSC Ensembl
Outerchr2:54693488..54693776hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241e215
Supporting Variantsessv9755713
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556966
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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