A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12513048



Internal ID3475575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117175309..117258293hg38UCSC Ensembl
chr6:117496472..117579456hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3882985
hg1982985
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610486
Supporting Variants
SamplesHG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12513048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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