A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645911



Internal ID7032659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44646460..44649677hg38UCSC Ensembl
Innerchr20:44646461..44649676hg38UCSC Ensembl
Outerchr20:44646459..44649678hg38UCSC Ensembl
chr20:43275101..43278318hg19UCSC Ensembl
Innerchr20:43275102..43278317hg19UCSC Ensembl
Outerchr20:43275100..43278319hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383218
hg193218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16193807, essv16193809, essv16193814, essv16193821, essv16193823, essv16193815, essv16193817, essv16193819, essv16193816, essv16193808, essv16193818, essv16193822, essv16193806, essv16193811, essv16193805, essv16193813, essv16193824, essv16193812, essv16193820, essv16193810
SamplesNA19701, NA18510, HG02621, NA19315, NA19916, NA20291, NA18520, NA19239, HG03114, NA19455, HG02585, HG03109, HG02675, HG02772, NA19375, HG03458, NA19835, NA19467, HG03103, HG03442
Known GenesADA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645911
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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