A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574966



Internal ID6699662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47759922..47759922hg38UCSC Ensembl
chr12:48153705..48153705hg19UCSC Ensembl
chr12:46439972..46439972hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992754
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574966
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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