A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797983



Internal ID19161032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229195933..229205005hg38UCSC Ensembl
Innerchr1:229331680..229340752hg19UCSC Ensembl
Innerchr1:227398303..227407375hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389073
hg199073
hg189073
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891193
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797983
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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