A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665214



Internal ID9584633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60334536..60336560hg38UCSC Ensembl
chr17:58411897..58413921hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382025
hg192025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv559e199
Supporting Variantsessv5725111, essv5629483, essv6420301, essv6209967, essv5674900, essv5506148, essv5764559, essv5448347, essv5449422, essv5441114, essv5779040, essv5441446, essv5878504, essv6498439, essv6456719, essv5558325, essv5902459, essv6562416, essv5869358, essv6526339, essv5484595, essv5414446, essv5582417
SamplesNA19359, NA19355, HG00337, NA19374, HG00247, NA19471, HG01198, NA18867, NA19247, NA19403, NA19462, HG01149, HG00692, NA19655, NA19453, HG00276, HG00146, NA19436, NA19652, NA19440, NA19834, NA19398, HG00553
Known GenesUSP32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665214
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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