A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667474



Internal ID9933579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:175750453..175758704hg38UCSC Ensembl
Outerchr4:175750296..175758857hg38UCSC Ensembl
Innerchr4:176671604..176679855hg19UCSC Ensembl
Outerchr4:176671447..176680008hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg388562
hg198562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5784626, essv6507592
SamplesNA19719, NA20527
Known GenesGPM6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667474
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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