A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607682



Internal ID6647922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177030278..177038721hg38UCSC Ensembl
chr5:176457279..176465722hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg388444
hg198444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12142475, essv12142474
SamplesNA19324, HG03823
Known GenesZNF346
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607682
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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