A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5783035



Internal ID8760438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36907182..36911140hg38UCSC Ensembl
Outerchr20:36907145..36911190hg38UCSC Ensembl
Innerchr20:35535585..35539543hg19UCSC Ensembl
Outerchr20:35535548..35539593hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg384046
hg194046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668593
Supporting Variants
SamplesNA19213
Known GenesSAMHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5783035
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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