A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3847906



Internal ID11567279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51983772..51983772hg38UCSC Ensembl
chr1:52449444..52449444hg19UCSC Ensembl
chr1:52222032..52222032hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1693930
Supporting Variants
SamplesHuRef
Known GenesRAB3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3847906
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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