A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633708



Internal ID7020515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21284946..21286497hg38UCSC Ensembl
Innerchr14:21284953..21286491hg38UCSC Ensembl
Outerchr14:21284940..21286504hg38UCSC Ensembl
chr14:21753105..21754656hg19UCSC Ensembl
Innerchr14:21753112..21754650hg19UCSC Ensembl
Outerchr14:21753099..21754663hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14926112, essv14926125, essv14926122, essv14926108, essv14926127, essv14926107, essv14926120, essv14926117, essv14926113, essv14926114, essv14926118, essv14926116, essv14926115, essv14926109, essv14926104, essv14926106, essv14926111, essv14926123, essv14926110, essv14926103, essv14926124, essv14926126, essv14926119, essv14926102, essv14926105, essv14926121
SamplesNA19397, NA19204, HG01885, HG03057, NA19201, HG03385, HG03099, NA19307, HG02595, HG03224, HG02281, HG03073, NA18908, HG02716, HG03132, HG02307, NA19461, HG02283, HG03354, HG02635, HG01990, HG03437, HG03458, HG01958, NA19376, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633708
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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