A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12542207



Internal ID1919735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128765206..128851088hg38UCSC Ensembl
chr6:129086351..129172233hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3885883
hg1985883
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610749
Supporting Variants
SamplesHG01796
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12542207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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