A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4325097



Internal ID11260949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1142178..1142178hg38UCSC Ensembl
chr19:1142177..1142177hg19UCSC Ensembl
chr19:1093177..1093177hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38988
hg19988
hg18988
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1210673
Supporting Variants
SamplesHuRef
Known GenesSBNO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4325097
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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