A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604060



Internal ID2424328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110245513..110257908hg38UCSC Ensembl
chr12:110683318..110695713hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3812396
hg1912396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630732
Supporting Variants
SamplesHG02141
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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