A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6459274



Internal ID9643028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44879394..44888756hg38UCSC Ensembl
Outerchr12:44879360..44888791hg38UCSC Ensembl
Innerchr12:45273177..45282539hg19UCSC Ensembl
Outerchr12:45273143..45282574hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389432
hg199432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676908
Supporting Variants
SamplesNA19376
Known GenesNELL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6459274
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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