A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603750



Internal ID6990781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:486646..636162hg38UCSC Ensembl
chr5:486761..636277hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38149517
hg19149517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11767877, essv11767876, essv11767874, essv11767875
SamplesHG01855, HG03888, HG00978, HG03166
Known GenesCEP72, LOC100996325, MIR4456, SLC9A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603750
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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