A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994317



Internal ID7078967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87403951..87409941hg38UCSC Ensembl
Outerchr6:88113669..88119659hg19UCSC Ensembl
Outerchr6:88170388..88176378hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg385204
hg195204
hg185204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565787
SamplesHuRef
Known GenesC6orf165
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994317
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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