A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586019



Internal ID6973538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50590936..50592888hg38UCSC Ensembl
Innerchr1:50590952..50592873hg38UCSC Ensembl
Outerchr1:50590921..50592904hg38UCSC Ensembl
chr1:51056608..51058560hg19UCSC Ensembl
Innerchr1:51056624..51058545hg19UCSC Ensembl
Outerchr1:51056593..51058576hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381953
hg191953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9928977
SamplesNA20515
Known GenesFAF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586019
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