A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646820



Internal ID7033563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30240841..30252552hg38UCSC Ensembl
Innerchr21:30240841..30252552hg38UCSC Ensembl
Outerchr21:30240341..30253052hg38UCSC Ensembl
chr21:31613159..31624870hg19UCSC Ensembl
Innerchr21:31613159..31624870hg19UCSC Ensembl
Outerchr21:31612659..31625370hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3811712
hg1911712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16310065
SamplesHG00109
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646820
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