A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667486



Internal ID9933591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156994839..156999948hg38UCSC Ensembl
chr5:156421850..156426959hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385110
hg195110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5522640, essv5987100, essv6245022
SamplesNA19720, HG00124, HG00119
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667486
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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