A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329090



Internal ID15176077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20779688..20780136hg38UCSC Ensembl
Innerchr22:20779812..20780012hg38UCSC Ensembl
Outerchr22:20779564..20780260hg38UCSC Ensembl
chr22:21133976..21134424hg19UCSC Ensembl
Innerchr22:21134100..21134300hg19UCSC Ensembl
Outerchr22:21133852..21134548hg19UCSC Ensembl
chr22:19463976..19464424hg18UCSC Ensembl
Innerchr22:19464100..19464300hg18UCSC Ensembl
Outerchr22:19463852..19464548hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38449
hg19449
hg18449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670967, essv8670968
SamplesNA19239, NA19240
Known GenesPI4KA, SERPIND1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329090
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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