A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892532



Internal ID19183352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47997845..48036613hg38UCSC Ensembl
Outerchr14:47990462..48036613hg38UCSC Ensembl
Innerchr14:48467048..48505816hg19UCSC Ensembl
Outerchr14:48459665..48505816hg19UCSC Ensembl
Innerchr14:47536798..47575566hg18UCSC Ensembl
Outerchr14:47529415..47575566hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3846152
hg1946152
hg1846152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789723, essv25793040, essv25787960, essv25788021, essv25790675, essv25787867, essv25791331, essv25792842, essv25788014, essv25790107, essv25788192, essv25790465
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892532
Frequency
Sample Size3017
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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