A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16462418



Internal ID6464234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50740750..50758284hg38UCSC Ensembl
Innerchr22:50740772..50758262hg38UCSC Ensembl
Outerchr22:50740728..50758306hg38UCSC Ensembl
chr22:51179178..51196712hg19UCSC Ensembl
Innerchr22:51179200..51196690hg19UCSC Ensembl
Outerchr22:51179156..51196734hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3817535
hg1917535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648096
Supporting Variants
SamplesNA18488
Known GenesACR, RPL23AP82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16462418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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