A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592383



Internal ID6632666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128274687..128280151hg38UCSC Ensembl
chr2:129032261..129037725hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385465
hg195465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664889
SamplesHG03788
Known GenesHS6ST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592383
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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