A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999151



Internal ID6735076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1051785..1051785hg38UCSC Ensembl
chr12:1160951..1160951hg19UCSC Ensembl
chr12:1031212..1031212hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584025
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999151
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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