A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421461



Internal ID6423277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38509211..38512874hg38UCSC Ensembl
Innerchr22:38509213..38512872hg38UCSC Ensembl
Outerchr22:38509209..38512876hg38UCSC Ensembl
chr22:38905216..38908879hg19UCSC Ensembl
Innerchr22:38905218..38908877hg19UCSC Ensembl
Outerchr22:38905214..38908881hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383664
hg193664
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647735
Supporting Variants
SamplesHG03040
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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