A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892547



Internal ID19183367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55435824..55486659hg38UCSC Ensembl
Outerchr14:55435824..55486659hg38UCSC Ensembl
Innerchr14:55902542..55953377hg19UCSC Ensembl
Outerchr14:55902542..55953377hg19UCSC Ensembl
Innerchr14:54972295..55023130hg18UCSC Ensembl
Outerchr14:54972295..55023130hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3850836
hg1950836
hg1850836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785053
Samples
Known GenesTBPL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892547
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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