A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664257



Internal ID9930362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122150082..122165852hg38UCSC Ensembl
Outerchr12:122149925..122166005hg38UCSC Ensembl
Innerchr12:122634629..122650399hg19UCSC Ensembl
Outerchr12:122634472..122650552hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816081
hg1916081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv323e199
Supporting Variantsessv5653357, essv5689287, essv6188766
SamplesNA19982, NA19248, HG01377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664257
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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