A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313528



Internal ID3783546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32698070..32699250hg38UCSC Ensembl
Innerchr21:32698079..32699242hg38UCSC Ensembl
Outerchr21:32698062..32699259hg38UCSC Ensembl
chr21:34070380..34071560hg19UCSC Ensembl
Innerchr21:34070389..34071552hg19UCSC Ensembl
Outerchr21:34070372..34071569hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646892
Supporting Variants
SamplesHG03433
Known GenesSYNJ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313528
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