A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641598



Internal ID7028372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3479012..3482716hg38UCSC Ensembl
Innerchr18:3479012..3482716hg38UCSC Ensembl
Outerchr18:3478710..3482916hg38UCSC Ensembl
chr18:3479010..3482714hg19UCSC Ensembl
Innerchr18:3479010..3482714hg19UCSC Ensembl
Outerchr18:3478708..3482914hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383705
hg193705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779352, essv15779345, essv15779340, essv15779346, essv15779354, essv15779349, essv15779353, essv15779341, essv15779344, essv15779342, essv15779339, essv15779338, essv15779337, essv15779333, essv15779350, essv15779334, essv15779343, essv15779348, essv15779335, essv15779351, essv15779336, essv15779347
SamplesHG02890, HG02583, NA19914, HG02870, NA18504, HG03515, HG03577, HG02589, NA19374, HG02621, HG02756, NA19209, NA19403, HG02878, HG03567, HG03028, HG02983, HG03117, HG01912, HG02107, HG03258, HG03198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641598
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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