A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6527447



Internal ID9504850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178226385..178233731hg38UCSC Ensembl
Outerchr5:178226348..178233781hg38UCSC Ensembl
Innerchr5:177653386..177660732hg19UCSC Ensembl
Outerchr5:177653349..177660782hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387434
hg197434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661450
Supporting Variants
SamplesHG00274
Known GenesPHYKPL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6527447
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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