A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5438712



Internal ID8416115
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 Flag1
Merged StatusS
Merged Variantsesv2672953
Supporting Variants
SamplesNA20753
Known GenesDOCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5438712
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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