A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606317



Internal ID6993253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113600969..113614543hg38UCSC Ensembl
chr5:112936666..112950240hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3813575
hg1913575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1126e214
Supporting Variantsessv12023525, essv12023524
SamplesHG01524, HG00345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606317
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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