A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642287



Internal ID7029057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39748743..39753067hg38UCSC Ensembl
chr18:37328707..37333031hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg384325
hg194325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15846824, essv15846823
SamplesHG03778, HG02684
Known GenesLINC00669
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642287
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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