A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589053



Internal ID6976470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228653841..228671324hg38UCSC Ensembl
chr1:228789588..228807071hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817484
hg1917484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10312646, essv10312647, essv10312650, essv10312651, essv10312649, essv10312648, essv10312652
SamplesHG03455, HG03452, NA18868, NA19206, NA19149, HG00116, HG03258
Known GenesRHOU
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589053
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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