A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586680



Internal ID6974198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85445227..85449326hg38UCSC Ensembl
chr1:85910910..85915009hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31e214
Supporting Variantsessv10004512, essv10004509, essv10004511, essv10004510
SamplesNA18959, NA19054, HG02184, NA18620
Known GenesDDAH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586680
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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