A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590807



Internal ID6978135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52945677..53063089hg38UCSC Ensembl
chr2:53172815..53290227hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38117413
hg19117413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696e214
Supporting Variantsessv10506579, essv10506580, essv10506581, essv10506582
SamplesHG04182, HG03681, HG01799, HG03686
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590807
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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