A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666397



Internal ID9932502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32966034..32970797hg38UCSC Ensembl
chr5:32966140..32970903hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384764
hg194764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5844501, essv6244297
SamplesNA12400, HG00472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666397
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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