A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641459



Internal ID7028233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38683..80723hg38UCSC Ensembl
Innerchr18:38730..80677hg38UCSC Ensembl
Outerchr18:38637..80770hg38UCSC Ensembl
chr18:38683..80723hg19UCSC Ensembl
Innerchr18:38730..80677hg19UCSC Ensembl
Outerchr18:38637..80770hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3842041
hg1942041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv592e214
Supporting Variantsessv15771475, essv15771480, essv15771479, essv15771476, essv15771468, essv15771471, essv15771481, essv15771482, essv15771472, essv15771474, essv15771485, essv15771488, essv15771487, essv15771489, essv15771470, essv15771469, essv15771484, essv15771477, essv15771483, essv15771486, essv15771478, essv15771473
SamplesHG00592, HG02026, HG02017, HG00622, NA19068, NA18547, HG02390, HG02522, HG02014, NA18573, NA18946, NA19009, NA18555, NA18531, NA18543, NA18591, HG00614, HG02116, HG02113, NA18983, HG00595, NA19004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641459
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