A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007109



Internal ID6719224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133021673..133021673hg38UCSC Ensembl
chr11:132891568..132891568hg19UCSC Ensembl
chr11:132396778..132396778hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574996
SamplesHuRef
Known GenesOPCML
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007109
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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