A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6293745



Internal ID8755996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180120130..180122745hg38UCSC Ensembl
Outerchr4:180119973..180122898hg38UCSC Ensembl
Innerchr4:181041283..181043898hg19UCSC Ensembl
Outerchr4:181041126..181044051hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg382926
hg192926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675463
Supporting Variants
SamplesHG00146
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6293745
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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