A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv256e214



Internal ID22756150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18195669..18202715hg38UCSC Ensembl
chr12:18348603..18355649hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387047
hg197047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628727, esv3628728
SamplesHG00650, HG04158, HG02061, HG01840, HG01595, HG00620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv256e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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