A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589023



Internal ID6629314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226947950..226957394hg38UCSC Ensembl
chr1:227135651..227145095hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389445
hg199445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309681, essv10309680
SamplesHG01700, HG01353
Known GenesADCK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589023
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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