A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893489



Internal ID19184309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44088319..44134540hg38UCSC Ensembl
Outerchr22:44088319..44134540hg38UCSC Ensembl
Innerchr22:44484199..44530420hg19UCSC Ensembl
Outerchr22:44484199..44530420hg19UCSC Ensembl
Innerchr22:42815532..42861753hg18UCSC Ensembl
Outerchr22:42815532..42861753hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3846222
hg1946222
hg1846222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25784487
Samples
Known GenesPARVB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893489
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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