A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5797885



Internal ID8775288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59708609..59710166hg38UCSC Ensembl
chr12:60102390..60103947hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381558
hg191558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677277
Supporting Variants
SamplesNA19098
Known GenesSLC16A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5797885
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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