A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12502453



Internal ID2504269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110732723..110734610hg38UCSC Ensembl
Innerchr6:110732728..110734606hg38UCSC Ensembl
Outerchr6:110732719..110734615hg38UCSC Ensembl
chr6:111053926..111055813hg19UCSC Ensembl
Innerchr6:111053931..111055809hg19UCSC Ensembl
Outerchr6:111053922..111055818hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381888
hg191888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610364
Supporting Variants
SamplesNA18923
Known GenesCDK19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12502453
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