A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553056



Internal ID18754132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16131510..16133436hg38UCSC Ensembl
Outerchr2:16131444..16133832hg38UCSC Ensembl
Innerchr2:16271632..16273558hg19UCSC Ensembl
Outerchr2:16271566..16273954hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382389
hg192389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv234e215
Supporting Variantsessv9751803
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553056
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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