A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676351



Internal ID9942456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12088711..12095155hg38UCSC Ensembl
Outerchr12:12088674..12095205hg38UCSC Ensembl
Innerchr12:12241645..12248089hg19UCSC Ensembl
Outerchr12:12241608..12248139hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386532
hg196532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5399452
SamplesNA18627
Known GenesBCL2L14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676351
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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