A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589222



Internal ID6976550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236520422..236578525hg38UCSC Ensembl
chr1:236683722..236741825hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3858104
hg1958104
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10338685
SamplesNA19916
Known GenesHEATR1, LGALS8, LGALS8-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589222
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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