A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646499



Internal ID7033243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18561346..18569551hg38UCSC Ensembl
Innerchr21:18561346..18569551hg38UCSC Ensembl
Outerchr21:18561253..18569644hg38UCSC Ensembl
chr21:19933664..19941869hg19UCSC Ensembl
Innerchr21:19933664..19941869hg19UCSC Ensembl
Outerchr21:19933571..19941962hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg388206
hg198206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16276612, essv16276599, essv16276603, essv16276601, essv16276602, essv16276608, essv16276606, essv16276600, essv16276609, essv16276607, essv16276598, essv16276604, essv16276597, essv16276611, essv16276595, essv16276596, essv16276605, essv16276610
SamplesHG03228, HG02476, NA19038, HG02634, HG03788, HG03746, NA20869, NA19722, NA19026, HG03787, HG02582, NA20299, HG03643, HG04118, HG03949, HG03870, HG03642, HG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646499
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer