A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666142



Internal ID9932247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43995318..43995751hg38UCSC Ensembl
chr13:44569454..44569887hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6065281, essv6517289, essv5560491, essv6051399, essv6034527
SamplesNA18947, NA18973, NA19064, NA19085, NA19080
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666142
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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