A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647570



Internal ID7034310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30839563..30880887hg38UCSC Ensembl
Innerchr22:30840063..30880387hg38UCSC Ensembl
Outerchr22:30838563..30881887hg38UCSC Ensembl
chr22:31235550..31276874hg19UCSC Ensembl
Innerchr22:31236050..31276374hg19UCSC Ensembl
Outerchr22:31234550..31277874hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3841325
hg1941325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403046
SamplesNA18640
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647570
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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