A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892535



Internal ID19183355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47506383..47605252hg38UCSC Ensembl
Outerchr14:47506383..47605252hg38UCSC Ensembl
Innerchr14:47975586..48074455hg19UCSC Ensembl
Outerchr14:47975586..48074455hg19UCSC Ensembl
Innerchr14:47045336..47144205hg18UCSC Ensembl
Outerchr14:47045336..47144205hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3898870
hg1998870
hg1898870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796069, essv25797156
Samples
Known GenesMDGA2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892535
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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