A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608219



Internal ID6995149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17705917..17715598hg38UCSC Ensembl
chr6:17706148..17715829hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg389682
hg199682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12204455, essv12204453, essv12204454
SamplesHG00879, HG02380, HG02182
Known GenesNUP153
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608219
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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