A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16408289



Internal ID6410105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33384447..33387348hg38UCSC Ensembl
Innerchr22:33384448..33387348hg38UCSC Ensembl
Outerchr22:33384447..33387349hg38UCSC Ensembl
chr22:33780433..33783334hg19UCSC Ensembl
Innerchr22:33780434..33783334hg19UCSC Ensembl
Outerchr22:33780433..33783335hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647626
Supporting Variants
SamplesHG03800
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16408289
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