A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647784



Internal ID7034523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40886439..40890155hg38UCSC Ensembl
Innerchr22:40886486..40890109hg38UCSC Ensembl
Outerchr22:40886393..40890202hg38UCSC Ensembl
chr22:41282443..41286159hg19UCSC Ensembl
Innerchr22:41282490..41286113hg19UCSC Ensembl
Outerchr22:41282397..41286206hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383717
hg193717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430049
SamplesHG04194
Known GenesXPNPEP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647784
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