A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893214



Internal ID19184034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42886210..42954411hg38UCSC Ensembl
Outerchr19:42843934..42979717hg38UCSC Ensembl
Innerchr19:43390362..43458563hg19UCSC Ensembl
Outerchr19:43348086..43483869hg19UCSC Ensembl
Innerchr19:48082202..48150403hg18UCSC Ensembl
Outerchr19:48039926..48175709hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38135784
hg19135784
hg18135784
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796581, essv25781675, essv25796040, essv25789591, essv25784961, essv25796742, essv25782603, essv25799792, essv25783686, essv25797814, essv25797035, essv25787958
Samples
Known GenesPSG1, PSG10P, PSG6, PSG7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893214
Frequency
Sample Size3017
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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