A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005415



Internal ID6717535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219631246..219637492hg38UCSC Ensembl
Outerchr2:220495968..220502214hg19UCSC Ensembl
Outerchr2:220204212..220210458hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386247
hg196247
hg186247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564729
SamplesHuRef
Known GenesSLC4A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005415
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