A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5810498



Internal ID9404257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101708628..101713308hg38UCSC Ensembl
chr12:102102406..102107086hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384681
hg194681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664879
Supporting Variants
SamplesNA18609
Known GenesCHPT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5810498
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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