A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606380



Internal ID6646623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116078844..116301158hg38UCSC Ensembl
chr5:115414541..115636855hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38222315
hg19222315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12030221
SamplesNA19083
Known GenesCOMMD10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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