A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791964



Internal ID19176343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51438843..51459147hg38UCSC Ensembl
Innerchr14:51905561..51925865hg19UCSC Ensembl
Innerchr14:50975311..50995615hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3820305
hg1920305
hg1820305
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892544
Supporting Variants
Samples
Known GenesFRMD6-AS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791964
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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