A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv649e214



Internal ID20122072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225317..80242203hg38UCSC Ensembl
chr18:77983200..78000086hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816887
hg1916887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3643338, esv3643339
SamplesHG01052, HG01048, HG01047, HG01396, HG01308, NA06984, HG03061
Known GenesPARD6G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv649e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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