A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892467



Internal ID19183287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20896061..20925130hg38UCSC Ensembl
Outerchr14:20876009..20952929hg38UCSC Ensembl
Innerchr14:21364220..21393289hg19UCSC Ensembl
Outerchr14:21344168..21421088hg19UCSC Ensembl
Innerchr14:20434060..20463129hg18UCSC Ensembl
Outerchr14:20414008..20490928hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3876921
hg1976921
hg1876921
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796714, essv25787814, essv25787844, essv25796654, essv25796419, essv25787425, essv25786828, essv25783231, essv25783327, essv25800952, essv25800142, essv25796101, essv25778453, essv25779098, essv25797663, essv25796911, essv25778851, essv25796699, essv25782928, essv25796394, essv25781283, essv25797702, essv25797780, essv25788185, essv25784222, essv25797928, essv25785712, essv25787288, essv25788151, essv25797551, essv25797888, essv25801112, essv25782777, essv25796668, essv25778961, essv25785696, essv25784565, essv25786470, essv25798396, essv25785755, essv25788191, essv25779639
Samples
Known GenesECRP, RNASE3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892467
Frequency
Sample Size3017
Observed Gain5
Observed Loss37
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer