A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6449572



Internal ID9023290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53469067..53473635hg38UCSC Ensembl
Outerchr20:53469033..53473670hg38UCSC Ensembl
Innerchr20:52085606..52090174hg19UCSC Ensembl
Outerchr20:52085572..52090209hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384638
hg194638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661793
Supporting Variants
SamplesHG00650
Known GenesTSHZ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6449572
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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