A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592367



Internal ID6979694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127794245..127797244hg38UCSC Ensembl
Innerchr2:127794245..127797244hg38UCSC Ensembl
Outerchr2:127793949..127797547hg38UCSC Ensembl
chr2:128551819..128554818hg19UCSC Ensembl
Innerchr2:128551819..128554818hg19UCSC Ensembl
Outerchr2:128551523..128555121hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10663845, essv10663853, essv10663849, essv10663862, essv10663851, essv10663844, essv10663860, essv10663863, essv10663864, essv10663856, essv10663850, essv10663846, essv10663861, essv10663858, essv10663857, essv10663854, essv10663843, essv10663855, essv10663859, essv10663848, essv10663847, essv10663852
SamplesNA18508, NA20346, NA20806, HG03385, NA19762, HG02325, HG02595, NA19131, HG02588, HG03380, HG02545, HG03169, HG03294, HG03078, HG02675, HG02557, HG02721, HG02837, HG02095, NA19716, HG02676, HG02679
Known GenesWDR33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592367
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