A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646750



Internal ID7033493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:27128149..27131155hg38UCSC Ensembl
Innerchr21:27128161..27131143hg38UCSC Ensembl
Outerchr21:27128137..27131167hg38UCSC Ensembl
chr21:28500468..28503474hg19UCSC Ensembl
Innerchr21:28500480..28503462hg19UCSC Ensembl
Outerchr21:28500456..28503486hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg383007
hg193007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16303744
SamplesHG03771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646750
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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