A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648071



Internal ID6688122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49767845..49805738hg38UCSC Ensembl
Innerchr22:49767845..49805738hg38UCSC Ensembl
Outerchr22:49767345..49806238hg38UCSC Ensembl
chr22:50161493..50199386hg19UCSC Ensembl
Innerchr22:50161493..50199386hg19UCSC Ensembl
Outerchr22:50160993..50199886hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3837894
hg1937894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16457786, essv16457778, essv16457780, essv16457779, essv16457782, essv16457781, essv16457785, essv16457784, essv16457783, essv16457787
SamplesHG00142, HG00272, NA18995, NA19917, HG00182, NA19908, HG00629, HG00266, HG00404, HG00373
Known GenesBRD1, LOC90834
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648071
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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