A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640917



Internal ID7027691
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15714806, essv15714805, essv15714804
SamplesNA18988, NA18950, NA18989
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640917
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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