A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586826



Internal ID6971998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93233196..93256349hg38UCSC Ensembl
Innerchr1:93233196..93256349hg38UCSC Ensembl
Outerchr1:93232696..93256849hg38UCSC Ensembl
chr1:93698753..93721906hg19UCSC Ensembl
Innerchr1:93698753..93721906hg19UCSC Ensembl
Outerchr1:93698253..93722406hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3823154
hg1923154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10022145
SamplesNA21130
Known GenesCCDC18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586826
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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