A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589008



Internal ID6629299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226070529..226075723hg38UCSC Ensembl
chr1:226258230..226263424hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg385195
hg195195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309262, essv10309263, essv10309264
SamplesHG03121, HG00139, HG01608
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589008
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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