A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626398



Internal ID7013231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:54554349..54582237hg38UCSC Ensembl
chr11:51537043..51564931hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg3827889
hg1927889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14153902, essv14153897, essv14153896, essv14153899, essv14153898, essv14153901, essv14153900
SamplesHG02375, NA19704, HG00181, HG03246, NA19681, HG02137, HG01861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626398
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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