A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576681



Internal ID7048063
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000713
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576681
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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