A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307775



Internal ID14808037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19223370..19223371hg38UCSC Ensembl
Innerchr22:19223337..19223404hg38UCSC Ensembl
Outerchr22:19223336..19223405hg38UCSC Ensembl
chr22:19210893..19210894hg19UCSC Ensembl
Innerchr22:19210860..19210927hg19UCSC Ensembl
Outerchr22:19210859..19210928hg19UCSC Ensembl
chr22:17590893..17590894hg18UCSC Ensembl
Innerchr22:17590927..17590860hg18UCSC Ensembl
Outerchr22:17590859..17590928hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386006
hg196006
hg186006
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753100, essv7760942, essv7753833, essv7757154, essv7747653, essv7761269, essv7753180, essv7751734, essv7740412, essv7751332
SamplesNA11881, NA18951, NA11920, NA18563, NA07357, NA11995, NA12892, NA18940, NA11993, NA12045
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307775
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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