A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996324



Internal ID6732268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137721354..137723395hg38UCSC Ensembl
Outerchr9:140615806..140617847hg19UCSC Ensembl
Outerchr9:139735627..139737668hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382353
hg192353
hg182353
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563681
SamplesHuRef
Known GenesEHMT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996324
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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