A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664742



Internal ID9930847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17077204..17078511hg38UCSC Ensembl
chr5:17077313..17078620hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5591394, essv6378501, essv5840454
SamplesNA19394, NA19440, NA19434
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664742
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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