A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605595



Internal ID6992533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81448032..81642517hg38UCSC Ensembl
chr5:80743851..80938336hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38194486
hg19194486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11956847
SamplesHG03687
Known GenesRNU5D-1, RNU5E-1, SSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605595
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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