A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617088



Internal ID7003974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47147176..47153397hg38UCSC Ensembl
chr8:48058799..48065020hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg386222
hg196222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1392e214
Supporting Variantsessv13192138
SamplesNA21127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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