A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599593



Internal ID6639857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9722281..9836957hg38UCSC Ensembl
chr4:9723905..9838581hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38114677
hg19114677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11352432, essv11352430, essv11352431
SamplesHG03965, HG03016, NA18978
Known GenesDRD5, SLC2A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599593
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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