A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892544



Internal ID19183364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51438843..51459147hg38UCSC Ensembl
Outerchr14:51438843..51459147hg38UCSC Ensembl
Innerchr14:51905561..51925865hg19UCSC Ensembl
Outerchr14:51905561..51925865hg19UCSC Ensembl
Innerchr14:50975311..50995615hg18UCSC Ensembl
Outerchr14:50975311..50995615hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3820305
hg1920305
hg1820305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791964
Samples
Known GenesFRMD6-AS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892544
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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