A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606059



Internal ID6646302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103160568..103275759hg38UCSC Ensembl
chr5:102496272..102611460hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38115192
hg19115189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12002321, essv12002322
SamplesNA19025, HG01786
Known GenesC5orf30, PPIP5K2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606059
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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