A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564564



Internal ID7035664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125524651..125526316hg38UCSC Ensembl
Outerchr8:126536893..126538558hg19UCSC Ensembl
Outerchr8:126606075..126607740hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg385788
hg195788
hg185788
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996204
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564564
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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