A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664619



Internal ID9584038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170013202..170014152hg38UCSC Ensembl
chr5:169440206..169441156hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1055e199
Supporting Variantsessv5831776, essv5777669, essv5740830, essv6251459, essv5878984
SamplesNA20753, NA18910, NA19776, NA18909, HG00472
Known GenesDOCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664619
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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