A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454862



Internal ID6647878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85687987..85723419hg38UCSC Ensembl
chr6:86397705..86433137hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3835433
hg1935433
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609823
Supporting Variants
SamplesNA20801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454862
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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