A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011092



Internal ID7075043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129044845..129061875hg38UCSC Ensembl
Outerchr12:129529390..129546420hg19UCSC Ensembl
Outerchr12:128095343..128112373hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810156
hg1910156
hg1810156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564528
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011092
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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