A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557054



Internal ID18758130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38510622..38510926hg38UCSC Ensembl
Outerchr20:38510572..38510987hg38UCSC Ensembl
Innerchr20:37139265..37139569hg19UCSC Ensembl
Outerchr20:37139215..37139630hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755801
Samples
Known GenesRALGAPB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557054
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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