A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796078



Internal ID19170780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190612242..190654880hg38UCSC Ensembl
Innerchr1:190581372..190624010hg19UCSC Ensembl
Innerchr1:188847995..188890633hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3842639
hg1942639
hg1842639
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890904
Supporting Variants
Samples
Known GenesLOC440704
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796078
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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