A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677114



Internal ID9943219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33111485..33113423hg38UCSC Ensembl
chr12:33264419..33266357hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381939
hg191939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5456024, essv6091920
SamplesHG01170, HG00732
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677114
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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