A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5910670



Internal ID9522476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33064610..33075357hg38UCSC Ensembl
Outerchr20:33064573..33075407hg38UCSC Ensembl
Innerchr20:31652416..31663163hg19UCSC Ensembl
Outerchr20:31652379..31663213hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3810835
hg1910835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668356
Supporting Variants
SamplesNA19010
Known GenesBPIFB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5910670
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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