A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14401279



Internal ID4622051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18973909..19027056hg38UCSC Ensembl
chr12:19126843..19179990hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3853148
hg1953148
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628748
Supporting Variants
SamplesHG04156
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14401279
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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