A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560992



Internal ID18762068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217091175..217092496hg38UCSC Ensembl
Outerchr2:217091119..217092589hg38UCSC Ensembl
Innerchr2:217955898..217957219hg19UCSC Ensembl
Outerchr2:217955842..217957312hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759739
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560992
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer