A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1653085



Internal ID12469517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253888..32253888hg38UCSC Ensembl
chr12:32406822..32406822hg19UCSC Ensembl
chr12:32298089..32298089hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4157909
SamplesHuRef
Known GenesBICD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1653085
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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