A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4350155



Internal ID11286007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32252135..32252135hg38UCSC Ensembl
chr12:32405069..32405069hg19UCSC Ensembl
chr12:32296336..32296336hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38328
hg19328
hg18328
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1526675
Supporting Variants
SamplesHuRef
Known GenesBICD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4350155
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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