A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758967



Internal ID18733213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138925525..138926872hg38UCSC Ensembl
Outerchr2:138925510..138926936hg38UCSC Ensembl
Innerchr2:139683095..139684442hg19UCSC Ensembl
Outerchr2:139683080..139684506hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560220
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758967
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