A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10318858



Internal ID320674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231343890..231346486hg38UCSC Ensembl
Innerchr1:231343920..231346456hg38UCSC Ensembl
Outerchr1:231343860..231346516hg38UCSC Ensembl
chr1:231479636..231482232hg19UCSC Ensembl
Innerchr1:231479666..231482202hg19UCSC Ensembl
Outerchr1:231479606..231482262hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382597
hg192597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589109
Supporting Variants
SamplesHG02494
Known GenesSPRTN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10318858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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