A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672102



Internal ID9938207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80042171..80044730hg38UCSC Ensembl
Outerchr12:80042134..80044784hg38UCSC Ensembl
Innerchr12:80435951..80438510hg19UCSC Ensembl
Outerchr12:80435914..80438564hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382651
hg192651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5576911, essv6330595
SamplesNA19917, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672102
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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