A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589398



Internal ID6629687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243976895..244119428hg38UCSC Ensembl
chr1:244140197..244282730hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38142534
hg19142534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10359980
SamplesNA21106
Known GenesLOC339529, ZBTB18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589398
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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