A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5818119



Internal ID9034322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54567531..54568690hg38UCSC Ensembl
Outerchr4:54567494..54568740hg38UCSC Ensembl
Innerchr4:55433698..55434857hg19UCSC Ensembl
Outerchr4:55433661..55434907hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675437
Supporting Variants
SamplesHG00662
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5818119
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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