A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313603



Internal ID6315419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33512663..33516843hg38UCSC Ensembl
Innerchr21:33512663..33516843hg38UCSC Ensembl
Outerchr21:33512552..33517001hg38UCSC Ensembl
chr21:34884970..34889150hg19UCSC Ensembl
Innerchr21:34884970..34889150hg19UCSC Ensembl
Outerchr21:34884859..34889308hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384181
hg194181
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646906
Supporting Variants
SamplesHG02583
Known GenesGART
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313603
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