A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644609



Internal ID6684675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48935435..48937743hg38UCSC Ensembl
Innerchr19:48935459..48937719hg38UCSC Ensembl
Outerchr19:48935411..48937767hg38UCSC Ensembl
chr19:49438692..49441000hg19UCSC Ensembl
Innerchr19:49438716..49440976hg19UCSC Ensembl
Outerchr19:49438668..49441024hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075059, essv16075062, essv16075047, essv16075061, essv16075064, essv16075055, essv16075058, essv16075067, essv16075068, essv16075054, essv16075071, essv16075063, essv16075048, essv16075051, essv16075050, essv16075066, essv16075049, essv16075060, essv16075069, essv16075065, essv16075057, essv16075056, essv16075052, essv16075053, essv16075070
SamplesHG04212, NA21099, NA20864, HG04038, HG02493, NA21109, HG04047, HG02047, HG04062, HG03636, HG03823, NA20867, HG04173, HG03740, HG03694, NA20851, HG03702, NA21095, HG02700, NA20849, HG04098, HG02774, HG04061, HG03955, HG01583
Known GenesDHDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644609
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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