A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320716



Internal ID2792095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38729967..38741050hg38UCSC Ensembl
Innerchr21:38730467..38740550hg38UCSC Ensembl
Outerchr21:38728967..38742050hg38UCSC Ensembl
chr21:40101891..40112974hg19UCSC Ensembl
Innerchr21:40102391..40112474hg19UCSC Ensembl
Outerchr21:40100891..40113974hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3811084
hg1911084
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647006
Supporting Variants
SamplesHG02465
Known GenesLINC00114
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320716
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