A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645554



Internal ID6685616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24521298..24528572hg38UCSC Ensembl
Innerchr20:24521298..24528572hg38UCSC Ensembl
Outerchr20:24521033..24528743hg38UCSC Ensembl
chr20:24501934..24509208hg19UCSC Ensembl
Innerchr20:24501934..24509208hg19UCSC Ensembl
Outerchr20:24501669..24509379hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg387275
hg197275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16163969, essv16163968
SamplesHG01841, HG01801
Known GenesSYNDIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645554
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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