A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1100e214



Internal ID22756994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45831151..45923728hg38UCSC Ensembl
chr5:45831253..45923830hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3892578
hg1992578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3604959, esv3604960
SamplesHG01513, HG04100, NA19317, NA19347, NA20809, NA19037, NA19324
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1100e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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