A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5831809



Internal ID9393417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119002887..119005011hg38UCSC Ensembl
chr12:119440692..119442816hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382125
hg192125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659059
Supporting Variants
SamplesNA18596
Known GenesSRRM4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5831809
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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