A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421071



Internal ID6422887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37466230..37470820hg38UCSC Ensembl
Innerchr22:37466282..37470769hg38UCSC Ensembl
Outerchr22:37466179..37470872hg38UCSC Ensembl
chr22:37862268..37866858hg19UCSC Ensembl
Innerchr22:37862320..37866807hg19UCSC Ensembl
Outerchr22:37862217..37866910hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384591
hg194591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647709
Supporting Variants
SamplesNA19063
Known GenesMFNG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421071
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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