A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596174



Internal ID6983491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53970892..54000847hg38UCSC Ensembl
chr3:54004919..54034874hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3829956
hg1929956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv891e214
Supporting Variantsessv11015020, essv11015022, essv11015021
SamplesNA12283, HG03762, HG01198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596174
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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