A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv300e214



Internal ID22756194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104192667..104205750hg38UCSC Ensembl
chr12:104586445..104599528hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3813084
hg1913084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630628, esv3630627
SamplesNA20894, HG01976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv300e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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