A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647709



Internal ID6687763
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421070, essv16421071
SamplesNA19005, NA19063
Known GenesMFNG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647709
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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