A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676908



Internal ID9943013
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 Flag
Merged StatusM
Merged Variantsdgv288e199
Supporting Variantsessv6459274
SamplesNA19376
Known GenesNELL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676908
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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