A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571274



Internal ID6594445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93450497..93454313hg38UCSC Ensembl
chr12:93844273..93848089hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383817
hg193817
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630398
Supporting Variants
SamplesNA20769
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571274
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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