A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793070



Internal ID18817074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46783912..46911729hg38UCSC Ensembl
Innerchr19:47287169..47414986hg19UCSC Ensembl
Innerchr19:51979009..52106826hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38127818
hg19127818
hg18127818
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893224
Supporting Variants
Samples
Known GenesAP2S1, SLC1A5, SNAR-E
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793070
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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