A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6012776



Internal ID9808095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86341629..86382110hg38UCSC Ensembl
chr12:86735407..86775888hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3840482
hg1940482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676787
Supporting Variants
SamplesNA19909
Known GenesMGAT4C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6012776
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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