A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004880



Internal ID7069976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:172858239..172869592hg38UCSC Ensembl
Outerchr4:173779390..173790743hg19UCSC Ensembl
Outerchr4:174015965..174027318hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3811354
hg1911354
hg1811354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564862
SamplesHuRef
Known GenesGALNTL6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004880
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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