A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002267



Internal ID6714401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21608822..21618373hg38UCSC Ensembl
Outerchr1:21935315..21944866hg19UCSC Ensembl
Outerchr1:21807902..21817453hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg389552
hg199552
hg189552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564498
SamplesHuRef
Known GenesRAP1GAP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002267
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