A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3926702



Internal ID11835170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33760269..33760269hg38UCSC Ensembl
chr19:34251174..34251174hg19UCSC Ensembl
chr19:38943014..38943014hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1700346
Supporting Variants
SamplesHuRef
Known GenesCHST8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3926702
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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