A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631012



Internal ID6671145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124290695..124349764hg38UCSC Ensembl
chr12:124775241..124834310hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3859070
hg1959070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14622669, essv14622671, essv14622670
SamplesHG00619, NA20529, NA19762
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631012
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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