A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005254



Internal ID6717375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106968776..106968776hg38UCSC Ensembl
chr11:106839502..106839502hg19UCSC Ensembl
chr11:106344712..106344712hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571944
SamplesHuRef
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005254
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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