A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630410



Internal ID7017229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93934273..93969229hg38UCSC Ensembl
chr12:94328049..94363005hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3834957
hg1934957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv294e214
Supporting Variantsessv14571803, essv14571805, essv14571800, essv14571799, essv14571801, essv14571804, essv14571802
SamplesHG03836, HG03943, HG03986, HG03691, HG03709, HG03934, NA20906
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630410
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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