A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607714



Internal ID6994646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178399136..178452141hg38UCSC Ensembl
chr5:177826137..177879142hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3853006
hg1953006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12147868
SamplesHG00237
Known GenesCOL23A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607714
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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