A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675163



Internal ID9594582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116567500..116569781hg38UCSC Ensembl
Outerchr12:116567311..116569965hg38UCSC Ensembl
Innerchr12:117005305..117007586hg19UCSC Ensembl
Outerchr12:117005116..117007770hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382655
hg192655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6337093, essv5544638, essv6469959
SamplesHG00581, HG00578, HG00635
Known GenesMAP1LC3B2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675163
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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