A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5600160



Internal ID9700742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15746359..15753569hg38UCSC Ensembl
chr12:15899293..15906503hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387211
hg197211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663867
Supporting Variants
SamplesNA19451
Known GenesEPS8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5600160
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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