A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1689364



Internal ID12505796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13221225..13221225hg38UCSC Ensembl
chr19:13332039..13332039hg19UCSC Ensembl
chr19:13193039..13193039hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4111912
SamplesHuRef
Known GenesCACNA1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1689364
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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