A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893202



Internal ID19184022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40856268..40873243hg38UCSC Ensembl
Outerchr19:40844990..40878673hg38UCSC Ensembl
Innerchr19:41362173..41379148hg19UCSC Ensembl
Outerchr19:41350895..41384578hg19UCSC Ensembl
Innerchr19:46054013..46070988hg18UCSC Ensembl
Outerchr19:46042735..46076418hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3833684
hg1933684
hg1833684
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25798086, essv25796297, essv25798067, essv25787418, essv25779672, essv25780113, essv25797322, essv25778573, essv25797776, essv25796681, essv25780554, essv25796205, essv25779154, essv25796332, essv25797409, essv25797569, essv25783779, essv25792668, essv25797813, essv25781669, essv25796261, essv25779224, essv25798893, essv25797492, essv25797427, essv25797434, essv25796511, essv25787326, essv25796645, essv25796936, essv25796035, essv25797283, essv25797505, essv25797914, essv25797100, essv25796120, essv25796566, essv25797560, essv25797071, essv25796395, essv25797547, essv25796270, essv25797512, essv25797211, essv25785018, essv25796730, essv25796847, essv25783002, essv25797516, essv25797062, essv25796680, essv25798803, essv25795987, essv25797004, essv25794570, essv25796705, essv25796283, essv25781651, essv25781883, essv25796368, essv25797463, essv25780891, essv25788015, essv25796342, essv25796620, essv25782891, essv25796328, essv25796858, essv25797766, essv25782504, essv25797827, essv25797150, essv25796695, essv25796251, essv25798681, essv25797633, essv25797974
Samples
Known GenesCYP2A6, CYP2A7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893202
Frequency
Sample Size3017
Observed Gain1
Observed Loss76
Observed Complex0
Frequencyn/a


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