A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1789119



Internal ID12605551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32160004..32160004hg38UCSC Ensembl
chr12:32312938..32312938hg19UCSC Ensembl
chr12:32204205..32204205hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3874480
SamplesHuRef
Known GenesBICD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1789119
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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