A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563824



Internal ID7034924
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009508
Supporting Variants
SamplesHuRef
Known GenesGPM6A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563824
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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