A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585312



Internal ID6625632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15468398..15487980hg38UCSC Ensembl
Innerchr1:15468548..15487830hg38UCSC Ensembl
Outerchr1:15468248..15488130hg38UCSC Ensembl
chr1:15794893..15814475hg19UCSC Ensembl
Innerchr1:15795043..15814325hg19UCSC Ensembl
Outerchr1:15794743..15814625hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819583
hg1919583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863646
SamplesNA18981
Known GenesCELA2A, CELA2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585312
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