A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645826



Internal ID7032574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40491976..40494525hg38UCSC Ensembl
Innerchr20:40491987..40494515hg38UCSC Ensembl
Outerchr20:40491966..40494536hg38UCSC Ensembl
chr20:39120616..39123165hg19UCSC Ensembl
Innerchr20:39120627..39123155hg19UCSC Ensembl
Outerchr20:39120606..39123176hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16186582, essv16186583, essv16186586, essv16186581, essv16186587, essv16186584, essv16186585
SamplesHG03604, NA21109, NA20869, HG04006, HG02651, HG03985, HG03931
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645826
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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