A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660032



Internal ID9926137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71948514..71950978hg38UCSC Ensembl
chr13:72522652..72525116hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382465
hg192465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6280619, essv6247470, essv6084623, essv6172275
SamplesNA18508, NA19384, NA19395, NA18909
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660032
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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