A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454263



Internal ID2434682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84792930..84847927hg38UCSC Ensembl
chr6:85502648..85557645hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3854998
hg1954998
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609802
Supporting Variants
SamplesHG02146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454263
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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