A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5784781



Internal ID8919486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8792279..8792484hg38UCSC Ensembl
Outerchr4:8792242..8792534hg38UCSC Ensembl
Innerchr4:8794005..8794210hg19UCSC Ensembl
Outerchr4:8793968..8794260hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665252
Supporting Variants
SamplesHG00421
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5784781
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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