A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009508



Internal ID7073915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:175939475..175944782hg38UCSC Ensembl
Outerchr4:176860626..176865933hg19UCSC Ensembl
Outerchr4:177097620..177102927hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg385308
hg195308
hg185308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563824
SamplesHuRef
Known GenesGPM6A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009508
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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