A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004118



Internal ID6716244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31430610..31431881hg38UCSC Ensembl
Outerchr1:31903457..31904728hg19UCSC Ensembl
Outerchr1:31676044..31677315hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3813110
hg1913110
hg1813110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564081
SamplesHuRef
Known GenesSERINC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004118
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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