A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996111



Internal ID6732055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38108982..38112324hg38UCSC Ensembl
Outerchr22:38504989..38508331hg19UCSC Ensembl
Outerchr22:36834935..36838277hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382725
hg192725
hg182725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564541
SamplesHuRef
Known GenesBAIAP2L2, PLA2G6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996111
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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