A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630923



Internal ID6671056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120439963..120450931hg38UCSC Ensembl
chr12:120877766..120888734hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810969
hg1910969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618504, essv14618506, essv14618505, essv14618503
SamplesHG01075, HG00160, HG01777, HG02239
Known GenesCOX6A1, GATC, TRIAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630923
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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