A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15714806



Internal ID5511217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60011092..60034732hg38UCSC Ensembl
Innerchr17:60011092..60034732hg38UCSC Ensembl
Outerchr17:60010592..60035232hg38UCSC Ensembl
chr17:58088453..58112093hg19UCSC Ensembl
Innerchr17:58088453..58112093hg19UCSC Ensembl
Outerchr17:58087953..58112593hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3823641
hg1923641
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640917
Supporting Variants
SamplesNA18989
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15714806
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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