A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv612e214



Internal ID22756506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41800479..41855882hg38UCSC Ensembl
chr18:39380444..39435847hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3855404
hg1955404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3642339, esv3642338
SamplesNA11829, HG00282, HG00190, HG00366, HG00180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv612e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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