A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674487



Internal ID9593906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18338429..18338777hg38UCSC Ensembl
Outerchr12:18338392..18338827hg38UCSC Ensembl
Innerchr12:18491363..18491711hg19UCSC Ensembl
Outerchr12:18491326..18491761hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5698351
SamplesNA18505
Known GenesPIK3C2G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674487
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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