A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587564



Internal ID6974987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152618062..152669875hg38UCSC Ensembl
chr1:152590538..152642351hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3851814
hg1951814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10148222
SamplesHG01504
Known GenesLCE2D, LCE3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587564
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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