A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785678



Internal ID19177073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190612242..190646507hg38UCSC Ensembl
Innerchr1:190581372..190615637hg19UCSC Ensembl
Innerchr1:188847995..188882260hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3834266
hg1934266
hg1834266
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 HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785678
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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