A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663452



Internal ID9929557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115298200..115307877hg38UCSC Ensembl
Outerchr12:115298163..115307927hg38UCSC Ensembl
Innerchr12:115736005..115745682hg19UCSC Ensembl
Outerchr12:115735968..115745732hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg389765
hg199765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5880826
SamplesNA18999
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663452
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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