A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631011



Internal ID6671144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124289768..124548418hg38UCSC Ensembl
chr12:124774314..125032964hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38258651
hg19258651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14622668
SamplesNA20529
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631011
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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