A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555300



Internal ID18756376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38844347..38844673hg38UCSC Ensembl
Outerchr2:38844266..38844724hg38UCSC Ensembl
Innerchr2:39071489..39071815hg19UCSC Ensembl
Outerchr2:39071408..39071866hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754047
Samples
Known GenesDHX57
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555300
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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