A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000470



Internal ID6712614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207118900..207119857hg38UCSC Ensembl
Outerchr1:207292245..207293202hg19UCSC Ensembl
Outerchr1:205358868..205359825hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38958
hg19958
hg18958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564887
SamplesHuRef
Known GenesC4BPA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000470
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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