A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564081



Internal ID6688464
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004118
Supporting Variants
SamplesHuRef
Known GenesSERINC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564081
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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