A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564850



Internal ID6689546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112692198..112700675hg38UCSC Ensembl
Outerchr1:113234820..113243297hg19UCSC Ensembl
Outerchr1:113036343..113044820hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388478
hg198478
hg188478
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997362
Supporting Variants
SamplesHuRef
Known GenesMOV10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564850
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