A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562254



Internal ID18763330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97716287..97716583hg38UCSC Ensembl
Outerchr3:97716231..97716614hg38UCSC Ensembl
Innerchr3:97435131..97435427hg19UCSC Ensembl
Outerchr3:97435075..97435458hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761001
Samples
Known GenesEPHA6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562254
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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