A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571103



Internal ID6695799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107026151..107026151hg38UCSC Ensembl
chr12:107419929..107419929hg19UCSC Ensembl
chr12:105944059..105944059hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001965
Supporting Variants
SamplesHuRef
Known GenesCRY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571103
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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