A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603269



Internal ID6990301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175788318..175889410hg38UCSC Ensembl
chr4:176709469..176810561hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38101093
hg19101093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11717782
SamplesNA19731
Known GenesGPM6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603269
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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