A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4274034



Internal ID11209886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55308364..55308364hg38UCSC Ensembl
chr19:55819732..55819732hg19UCSC Ensembl
chr19:60511544..60511544hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1551083
Supporting Variants
SamplesHuRef
Known GenesBRSK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4274034
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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