A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543172



Internal ID18397562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18993892..19005415hg38UCSC Ensembl
Outerchr8:18993346..19008104hg38UCSC Ensembl
Innerchr8:18851402..18862925hg19UCSC Ensembl
Outerchr8:18850856..18865614hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3814759
hg1914759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv465e215
Supporting Variantsessv9741919
Samples
Known GenesPSD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543172
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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