A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788997



Internal ID19162736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47311524..49364377hg38UCSC Ensembl
Innerchr14:47780727..49831095hg19UCSC Ensembl
Innerchr14:46850477..48900845hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382052854
hg192050369
hg182050369
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892536
Supporting Variants
Samples
Known GenesLINC00648, MDGA2, MIR548Y
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=433
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788997
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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