A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647571



Internal ID7034311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30843755..30857750hg38UCSC Ensembl
Innerchr22:30843755..30857750hg38UCSC Ensembl
Outerchr22:30843255..30858250hg38UCSC Ensembl
chr22:31239742..31253737hg19UCSC Ensembl
Innerchr22:31239742..31253737hg19UCSC Ensembl
Outerchr22:31239242..31254237hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3813996
hg1913996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403047, essv16403048, essv16403051, essv16403050, essv16403049
SamplesNA18640, HG03907, NA21123, NA21101, NA21093
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647571
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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