A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6234633



Internal ID9212036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78978316..78981022hg38UCSC Ensembl
Outerchr18:78977945..78981392hg38UCSC Ensembl
Innerchr18:76738316..76741022hg19UCSC Ensembl
Outerchr18:76737945..76741392hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383448
hg193448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2666555
Supporting Variants
SamplesHG00580
Known GenesSALL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6234633
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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