A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5833178



Internal ID8810581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93492587..93523986hg38UCSC Ensembl
Outerchr12:93492553..93524021hg38UCSC Ensembl
Innerchr12:93886363..93917762hg19UCSC Ensembl
Outerchr12:93886329..93917797hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3831469
hg1931469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672281
Supporting Variants
SamplesNA19704
Known GenesMRPL42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5833178
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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