A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589106



Internal ID6629397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231110289..231278336hg38UCSC Ensembl
chr1:231246035..231414082hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38168048
hg19168048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10318750
SamplesHG01089
Known GenesC1orf131, GNPAT, LOC149373, TRIM67
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589106
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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