A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992736



Internal ID6728697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226635239..226639445hg38UCSC Ensembl
Outerchr1:226822940..226827146hg19UCSC Ensembl
Outerchr1:224889563..224893769hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384207
hg194207
hg184207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565601
SamplesHuRef
Known GenesITPKB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992736
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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