A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6088087



Internal ID9700984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47283230..47286018hg38UCSC Ensembl
chr12:47677013..47679801hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382789
hg192789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669256
Supporting Variants
SamplesNA19451
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6088087
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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