A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565703



Internal ID6690399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51906750..51909251hg38UCSC Ensembl
Outerchr1:52372422..52374923hg19UCSC Ensembl
Outerchr1:52145010..52147511hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384536
hg194536
hg184536
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010825
Supporting Variants
SamplesHuRef
Known GenesRAB3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565703
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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