A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932434



Internal ID6557727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54564795..54587087hg38UCSC Ensembl
chr1:55030468..55052760hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3822293
hg1922293
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586094
Supporting Variants
SamplesHG00457
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932434
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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