A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664142



Internal ID9930247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110789127..110800308hg38UCSC Ensembl
Outerchr12:110788968..110800465hg38UCSC Ensembl
Innerchr12:111226932..111238112hg19UCSC Ensembl
Outerchr12:111226773..111238269hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3811498
hg1911497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5781905, essv5612887
SamplesNA19235, NA18909
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664142
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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