A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564295



Internal ID7035395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125383897..125390337hg38UCSC Ensembl
Outerchr6:125705043..125711483hg19UCSC Ensembl
Outerchr6:125746742..125753182hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386441
hg196441
hg186441
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997052
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564295
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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