A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630399



Internal ID7017218
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv293e214
Supporting Variantsessv14571291, essv14571290, essv14571292
SamplesNA20274, NA11931, HG00261
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630399
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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