A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478720



Internal ID5480536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53058064..53061156hg38UCSC Ensembl
Innerchr16:53058073..53061148hg38UCSC Ensembl
Outerchr16:53058056..53061165hg38UCSC Ensembl
chr16:53091976..53095068hg19UCSC Ensembl
Innerchr16:53091985..53095060hg19UCSC Ensembl
Outerchr16:53091968..53095077hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383093
hg193093
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638644
Supporting Variants
SamplesNA20904
Known GenesCHD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478720
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