A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12554757



Internal ID2556573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132744922..132750380hg38UCSC Ensembl
chr6:133066061..133071519hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385459
hg195459
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610842
Supporting Variants
SamplesHG02439
Known GenesVNN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12554757
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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