A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3837647



Internal ID11577538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1185758..1185758hg38UCSC Ensembl
chr16:1235758..1235758hg19UCSC Ensembl
chr16:1175759..1175759hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1043406
Supporting Variants
SamplesHuRef
Known GenesCACNA1H
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3837647
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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