A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592991



Internal ID6633274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154445647..154453382hg38UCSC Ensembl
chr2:155302159..155309894hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg387736
hg197736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10719666, essv10719665, essv10719663, essv10719664
SamplesHG04020, HG02283, NA19078, HG02760
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592991
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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