A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893216



Internal ID19184036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42897784..43142978hg38UCSC Ensembl
Outerchr19:42802004..43261678hg38UCSC Ensembl
Innerchr19:43401936..43647130hg19UCSC Ensembl
Outerchr19:43306156..43765830hg19UCSC Ensembl
Innerchr19:48093776..48338970hg18UCSC Ensembl
Outerchr19:47997996..48457670hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38459675
hg19459675
hg18459675
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792456, essv25797844, essv25787725, essv25792481, essv25788208, essv25793055, essv25788098, essv25788320, essv25789787, essv25781809
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893216
Frequency
Sample Size3017
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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