A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564541



Internal ID6689237
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996111
Supporting Variants
SamplesHuRef
Known GenesBAIAP2L2, PLA2G6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564541
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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