A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585491



Internal ID6973014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23764803..23773585hg38UCSC Ensembl
Innerchr1:23765303..23773085hg38UCSC Ensembl
Outerchr1:23763803..23774585hg38UCSC Ensembl
chr1:24091293..24100075hg19UCSC Ensembl
Innerchr1:24091793..24099575hg19UCSC Ensembl
Outerchr1:24090293..24101075hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg388783
hg198783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9890081, essv9890066, essv9890061, essv9890072, essv9890060, essv9890064, essv9890077, essv9890078, essv9890063, essv9890067, essv9890076, essv9890065, essv9890068, essv9890069, essv9890062, essv9890073, essv9890070, essv9890075, essv9890074, essv9890080, essv9890059, essv9890079, essv9890071
SamplesHG02318, HG03300, NA19350, HG02476, NA19393, NA19443, NA19446, NA19448, HG02549, NA19131, HG02111, NA19041, NA19383, HG03511, HG03311, HG03391, NA19436, NA19019, NA19037, HG03108, NA19475, NA19323, NA19431
Known GenesLOC100506963
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585491
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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