A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647268



Internal ID6687323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19257214..19263333hg38UCSC Ensembl
Innerchr22:19257247..19263300hg38UCSC Ensembl
Outerchr22:19257181..19263366hg38UCSC Ensembl
chr22:19244737..19250856hg19UCSC Ensembl
Innerchr22:19244770..19250823hg19UCSC Ensembl
Outerchr22:19244704..19250889hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16365231, essv16365230, essv16365229
SamplesHG04225, HG03756, NA20856
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647268
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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