A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16163968



Internal ID6165784
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645554
Supporting Variants
SamplesHG01801
Known GenesSYNDIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16163968
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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