A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893224



Internal ID18837358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46783912..46911729hg38UCSC Ensembl
Outerchr19:46783912..46911729hg38UCSC Ensembl
Innerchr19:47287169..47414986hg19UCSC Ensembl
Outerchr19:47287169..47414986hg19UCSC Ensembl
Innerchr19:51979009..52106826hg18UCSC Ensembl
Outerchr19:51979009..52106826hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38127818
hg19127818
hg18127818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25793070
Samples
Known GenesAP2S1, SLC1A5, SNAR-E
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893224
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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