A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657133



Internal ID9923238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121672538..121680218hg38UCSC Ensembl
Outerchr12:121672381..121680371hg38UCSC Ensembl
Innerchr12:122110444..122118124hg19UCSC Ensembl
Outerchr12:122110287..122118277hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387991
hg197991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv320e199
Supporting Variantsessv6477439, essv6332500
SamplesNA12843, HG01136
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657133
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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