A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554033



Internal ID18408423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25459715..25460920hg38UCSC Ensembl
Outerchr2:25459659..25461125hg38UCSC Ensembl
Innerchr2:25682584..25683789hg19UCSC Ensembl
Outerchr2:25682528..25683994hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381467
hg191467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752780
Samples
Known GenesDTNB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554033
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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