A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607929



Internal ID6994860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3331568..3335672hg38UCSC Ensembl
chr6:3331802..3335906hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384105
hg194105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12179118, essv12179119, essv12179120, essv12179122, essv12179121, essv12179123
SamplesHG02394, HG03999, HG00356, NA19457, NA19036, HG02401
Known GenesSLC22A23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607929
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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