A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008042



Internal ID6720152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31493425..31523617hg38UCSC Ensembl
Outerchr1:31966272..31989218hg19UCSC Ensembl
Outerchr1:31738859..31761805hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3810322
hg1910322
hg1810322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565286
SamplesHuRef
Known GenesLOC149086, LOC284551
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008042
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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