A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890904



Internal ID19185300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190612242..190646507hg38UCSC Ensembl
Outerchr1:190612242..190654880hg38UCSC Ensembl
Innerchr1:190581372..190615637hg19UCSC Ensembl
Outerchr1:190581372..190624010hg19UCSC Ensembl
Innerchr1:188847995..188882260hg18UCSC Ensembl
Outerchr1:188847995..188890633hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3842639
hg1942639
hg1842639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796078, essv25785678
Samples
Known GenesLOC440704
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890904
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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