A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892975



Internal ID19183795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19059330..19147697hg38UCSC Ensembl
Outerchr17:19003716..19220206hg38UCSC Ensembl
Innerchr17:18962643..19051010hg19UCSC Ensembl
Outerchr17:18907029..19123519hg19UCSC Ensembl
Innerchr17:18903368..18991735hg18UCSC Ensembl
Outerchr17:18847754..19064112hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38216491
hg19216491
hg18216359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779771, essv25779067, essv25785826, essv25781370, essv25783631, essv25781994, essv25781211, essv25783595, essv25787545, essv25785050, essv25786694, essv25780011, essv25783690, essv25783901, essv25783133, essv25783430, essv25786122, essv25785287, essv25783764, essv25784805, essv25779862, essv25783610, essv25783276, essv25783778, essv25782910, essv25780853, essv25781620, essv25780928, essv25785904, essv25779731, essv25784527, essv25783808, essv25782314, essv25782929, essv25781133, essv25781075, essv25785381, essv25781156, essv25784971, essv25781245, essv25783441, essv25786174, essv25781275, essv25782525, essv25798511, essv25785110, essv25783753, essv25783489, essv25781665, essv25781983, essv25783466, essv25780530, essv25783106, essv25782877, essv25783850, essv25784798, essv25782281, essv25785429, essv25780307, essv25780173, essv25780101, essv25782896, essv25781060, essv25783588, essv25784922, essv25782706, essv25784378, essv25782679, essv25780272, essv25781416, essv25784479, essv25781791, essv25779783, essv25784670, essv25781354, essv25780433, essv25786260, essv25783672, essv25799394, essv25780479, essv25779850, essv25783322
Samples
Known GenesFAM83G, GRAP, GRAPL, SLC5A10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892975
Frequency
Sample Size3017
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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