A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554189



Internal ID18755265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28131065..28131330hg38UCSC Ensembl
Outerchr2:28131030..28131401hg38UCSC Ensembl
Innerchr2:28353932..28354197hg19UCSC Ensembl
Outerchr2:28353897..28354268hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752936
Samples
Known GenesBRE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554189
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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