A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666127



Internal ID9932232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:38534032..38540167hg38UCSC Ensembl
Outerchr13:38533995..38540217hg38UCSC Ensembl
Innerchr13:39108169..39114304hg19UCSC Ensembl
Outerchr13:39108132..39114354hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386223
hg196223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5885483
SamplesNA18619
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666127
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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