A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5983859



Internal ID8961262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39654134..39654512hg38UCSC Ensembl
chr8:39511653..39512031hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2660839
Supporting Variants
SamplesNA18940
Known GenesADAM18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5983859
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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