A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5417207



Internal ID8394610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75123218..75125824hg38UCSC Ensembl
Outerchr16:75122847..75126194hg38UCSC Ensembl
Innerchr16:75157116..75159722hg19UCSC Ensembl
Outerchr16:75156745..75160092hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661131
Supporting Variants
SamplesHG00476
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5417207
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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