A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16414547



Internal ID6473094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36377612..36380466hg38UCSC Ensembl
Innerchr22:36377612..36380466hg38UCSC Ensembl
Outerchr22:36377498..36380572hg38UCSC Ensembl
chr22:36773657..36776511hg19UCSC Ensembl
Innerchr22:36773657..36776511hg19UCSC Ensembl
Outerchr22:36773543..36776617hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382855
hg192855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647684
Supporting Variants
SamplesNA20521
Known GenesMYH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16414547
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