A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606548



Internal ID6993483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120951576..121082531hg38UCSC Ensembl
chr5:120287271..120418226hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38130956
hg19130956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12039139, essv12039138
SamplesHG01326, HG03672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606548
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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