A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630738



Internal ID6670872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110698419..110708668hg38UCSC Ensembl
chr12:111136224..111146473hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3810250
hg1910250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604112, essv14604114, essv14604117, essv14604122, essv14604115, essv14604110, essv14604118, essv14604124, essv14604116, essv14604109, essv14604121, essv14604125, essv14604119, essv14604120, essv14604113, essv14604126, essv14604123, essv14604111
SamplesHG01885, HG02318, NA20278, HG03268, NA18868, HG03195, NA19445, HG03061, NA18934, HG01879, NA19114, HG01890, NA19625, HG03567, HG02923, HG02814, NA20357, NA19102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630738
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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