A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606544



Internal ID6993479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120884849..120988496hg38UCSC Ensembl
chr5:120220544..120324191hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38103648
hg19103648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12039133, essv12039132
SamplesHG01326, HG03672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606544
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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