A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5493583



Internal ID8470986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172420044..172426956hg38UCSC Ensembl
Outerchr1:172420007..172427006hg38UCSC Ensembl
Innerchr1:172389184..172396096hg19UCSC Ensembl
Outerchr1:172389147..172396146hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669467
Supporting Variants
SamplesNA18615
Known GenesC1orf105
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5493583
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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