A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556425



Internal ID18757501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42788849..43032665hg38UCSC Ensembl
Outerchr19:42777738..43043348hg38UCSC Ensembl
Innerchr19:43293001..43536817hg19UCSC Ensembl
Outerchr19:43281890..43547500hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38265611
hg19265611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223e215
Supporting Variantsessv9755172
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556425
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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