A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000337



Internal ID7065471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16079350..16079350hg38UCSC Ensembl
chr12:16232284..16232284hg19UCSC Ensembl
chr12:16123551..16123551hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568851
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000337
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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