A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16450997



Internal ID2032458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48718483..48719879hg38UCSC Ensembl
Innerchr22:48718483..48719879hg38UCSC Ensembl
Outerchr22:48718175..48720154hg38UCSC Ensembl
chr22:49114295..49115691hg19UCSC Ensembl
Innerchr22:49114295..49115691hg19UCSC Ensembl
Outerchr22:49113987..49115966hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381397
hg191397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648021
Supporting Variants
SamplesHG01865
Known GenesFAM19A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16450997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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