A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv309e214



Internal ID18980484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628443..123712471hg38UCSC Ensembl
chr12:124112990..124197018hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884029
hg1984029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630994, esv3630995
SamplesHG01357, HG02727, NA12762, HG02219, HG00623
Known GenesATP6V0A2, EIF2B1, GTF2H3, TCTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv309e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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