A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5572954



Internal ID8550357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96300300..96300638hg38UCSC Ensembl
chr9:99062582..99062920hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667821
Supporting Variants
SamplesNA20332
Known GenesHSD17B3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5572954
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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