A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647174



Internal ID6687229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46644958..46648215hg38UCSC Ensembl
Innerchr21:46644958..46648215hg38UCSC Ensembl
Outerchr21:46644750..46648474hg38UCSC Ensembl
chr21:48064870..48068127hg19UCSC Ensembl
Innerchr21:48064870..48068127hg19UCSC Ensembl
Outerchr21:48064662..48068386hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383258
hg193258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16347125
SamplesHG00581
Known GenesPRMT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647174
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