A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658299



Internal ID9924404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118009308..118010683hg38UCSC Ensembl
Outerchr12:118009254..118010733hg38UCSC Ensembl
Innerchr12:118447113..118448488hg19UCSC Ensembl
Outerchr12:118447059..118448538hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381480
hg191480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6152486, essv6395179, essv6113932, essv6313635, essv5639907, essv6354581, essv6057534, essv5903463, essv6057304, essv5548822, essv5764817, essv6190556, essv6227076, essv6485510, essv6222683, essv6178949, essv5887229, essv5799933, essv5698212, essv6417288, essv5591713, essv5731590, essv6471606, essv5483131, essv5868185, essv5719856, essv5400176, essv6349833
SamplesNA18861, NA19819, NA19393, NA19377, NA18870, NA19446, NA19201, NA18923, NA18916, NA19130, NA19137, NA18908, NA18973, NA19200, NA19462, HG01095, NA18871, NA20770, NA19114, NA18856, NA18912, NA19436, NA18953, NA19256, NA19473, NA19779, NA19900, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658299
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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