A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320707



Internal ID6322523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38539664..38545159hg38UCSC Ensembl
Innerchr21:38539667..38545157hg38UCSC Ensembl
Outerchr21:38539662..38545162hg38UCSC Ensembl
chr21:39911588..39917083hg19UCSC Ensembl
Innerchr21:39911591..39917081hg19UCSC Ensembl
Outerchr21:39911586..39917086hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385496
hg195496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647003
Supporting Variants
SamplesNA12003
Known GenesERG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320707
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