A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892536



Internal ID19183356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47311524..49364377hg38UCSC Ensembl
Outerchr14:47311524..49364377hg38UCSC Ensembl
Innerchr14:47780727..49831095hg19UCSC Ensembl
Outerchr14:47780727..49831095hg19UCSC Ensembl
Innerchr14:46850477..48900845hg18UCSC Ensembl
Outerchr14:46850477..48900845hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382052854
hg192050369
hg182050369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788997
Samples
Known GenesLINC00648, MDGA2, MIR548Y
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892536
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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