A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992767



Internal ID6728728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:36875063..36878627hg38UCSC Ensembl
Outerchr8:36732581..36736145hg19UCSC Ensembl
Outerchr8:36851739..36855303hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg383485
hg193485
hg183485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564012
SamplesHuRef
Known GenesKCNU1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992767
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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