A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16440521



Internal ID6043429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45071415..45075072hg38UCSC Ensembl
Innerchr22:45071426..45075062hg38UCSC Ensembl
Outerchr22:45071405..45075083hg38UCSC Ensembl
chr22:45467296..45470953hg19UCSC Ensembl
Innerchr22:45467307..45470943hg19UCSC Ensembl
Outerchr22:45467286..45470964hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383658
hg193658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647918
Supporting Variants
SamplesNA19443
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16440521
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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