A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4239186



Internal ID11175038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46753379..46753379hg38UCSC Ensembl
chr19:47256636..47256636hg19UCSC Ensembl
chr19:51948476..51948476hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1341540
Supporting Variants
SamplesHuRef
Known GenesFKRP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4239186
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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