A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990232



Internal ID7076475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:11555384..11556291hg38UCSC Ensembl
Outerchr6:11555617..11556524hg19UCSC Ensembl
Outerchr6:11663603..11664510hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563482
SamplesHuRef
Known GenesTMEM170B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990232
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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