A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14540726



Internal ID3784668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77469648..77648672hg38UCSC Ensembl
chr12:77863428..78042452hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38179025
hg19179025
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630044
Supporting Variants
SamplesHG03433
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14540726
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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