A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792035



Internal ID18820857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18529572..19941099hg38UCSC Ensembl
Innerchr14:19306049..20409258hg19UCSC Ensembl
Innerchr14:18376049..19479098hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381411528
hg191103210
hg181103050
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892461
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=205
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792035
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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