A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6294594



Internal ID9023407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53469016..53473565hg38UCSC Ensembl
Outerchr20:53468979..53473615hg38UCSC Ensembl
Innerchr20:52085555..52090104hg19UCSC Ensembl
Outerchr20:52085518..52090154hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384637
hg194637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674830
Supporting Variants
SamplesHG00650
Known GenesTSHZ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6294594
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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