A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410839



Internal ID15257799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48541976..48543174hg38UCSC Ensembl
Innerchr22:48542174..48542976hg38UCSC Ensembl
Outerchr22:48540976..48544174hg38UCSC Ensembl
chr22:48937788..48938986hg19UCSC Ensembl
Innerchr22:48937986..48938788hg19UCSC Ensembl
Outerchr22:48936788..48939986hg19UCSC Ensembl
chr22:47316452..47317650hg18UCSC Ensembl
Innerchr22:47317452..47316650hg18UCSC Ensembl
Outerchr22:47315452..47318650hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2629e59
Supporting Variantsessv8693339
SamplesNA19238
Known GenesFAM19A5, LOC284933
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410839
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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