A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603266



Internal ID6990298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175750393..175758821hg38UCSC Ensembl
Innerchr4:175750393..175758821hg38UCSC Ensembl
Outerchr4:175750043..175759208hg38UCSC Ensembl
chr4:176671544..176679972hg19UCSC Ensembl
Innerchr4:176671544..176679972hg19UCSC Ensembl
Outerchr4:176671194..176680359hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg388429
hg198429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11717670, essv11717672, essv11717671
SamplesNA19719, HG01501, NA20527
Known GenesGPM6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603266
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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