A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000713



Internal ID7065843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48797461..48797461hg38UCSC Ensembl
chr22:49193273..49193273hg19UCSC Ensembl
chr22:47579279..47579279hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38109
hg19109
hg18109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576681
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000713
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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