A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588360



Internal ID6975776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192745951..192750725hg38UCSC Ensembl
chr1:192715081..192719855hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg384775
hg194775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10239593, essv10239596, essv10239599, essv10239600, essv10239598, essv10239597, essv10239595, essv10239594
SamplesHG00189, HG02733, HG00185, HG00277, NA19725, HG00176, HG01161, HG00350
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588360
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer