A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677726



Internal ID9943831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127699123..127702490hg38UCSC Ensembl
Outerchr12:127699086..127702540hg38UCSC Ensembl
Innerchr12:128183668..128187035hg19UCSC Ensembl
Outerchr12:128183631..128187085hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383455
hg193455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5523353
SamplesNA20809
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677726
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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