A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6188782



Internal ID8948304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:43319844..43320887hg38UCSC Ensembl
Outerchr4:43319807..43320937hg38UCSC Ensembl
Innerchr4:43321861..43322904hg19UCSC Ensembl
Outerchr4:43321824..43322954hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674308
Supporting Variants
SamplesHG00479
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6188782
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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