A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553100



Internal ID18754176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17042335..17058689hg38UCSC Ensembl
Outerchr2:17038234..17060439hg38UCSC Ensembl
Innerchr2:17223602..17239956hg19UCSC Ensembl
Outerchr2:17219501..17241706hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3822206
hg1922206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751847
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553100
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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