A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3781040



Internal ID11634145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1162223..1162223hg38UCSC Ensembl
chr19:1162222..1162222hg19UCSC Ensembl
chr19:1113222..1113222hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383126
hg193126
hg183126
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1649795
Supporting Variants
SamplesHuRef
Known GenesSBNO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3781040
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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