A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009214



Internal ID34917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18268817..18268870hg38UCSC Ensembl
chr11:18290364..18290417hg19UCSC Ensembl
chr11:18246940..18246993hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3578238
SamplesHuRef
Known GenesSAA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009214
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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