A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658158



Internal ID9577577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112413400..112414736hg38UCSC Ensembl
Outerchr12:112413363..112414786hg38UCSC Ensembl
Innerchr12:112851204..112852540hg19UCSC Ensembl
Outerchr12:112851167..112852590hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322705, essv6266498
SamplesHG00108, HG00265
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658158
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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