A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12172259



Internal ID4537038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1166917..1214254hg38UCSC Ensembl
chr6:1167152..1214489hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3847338
hg1947338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607885
Supporting Variants
SamplesHG04033
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12172259
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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