A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005592



Internal ID7070687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84191989..84191989hg38UCSC Ensembl
chr11:83903032..83903032hg19UCSC Ensembl
chr11:83580680..83580680hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572985
SamplesHuRef
Known GenesDLG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005592
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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