A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1386e214



Internal ID18981561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19191523..19245650hg38UCSC Ensembl
chr8:19049033..19103160hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3854128
hg1954128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616539, esv3616540
SamplesNA19214, NA19449, HG01286, HG01182, HG03871
Known GenesLOC100128993
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1386e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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