A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3746571



Internal ID11668613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127099..88127099hg38UCSC Ensembl
chr12:88520876..88520876hg19UCSC Ensembl
chr12:87045007..87045007hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1473323
Supporting Variants
SamplesHuRef
Known GenesCEP290
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3746571
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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