A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv297e214



Internal ID20121720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99051318..99128190hg38UCSC Ensembl
chr12:99445096..99521968hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3876873
hg1976873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630521, esv3630520
SamplesHG01086, NA19316, NA19434
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv297e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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