A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990569



Internal ID7076700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:381328..381519hg38UCSC Ensembl
chr11:381328..381519hg19UCSC Ensembl
chr11:371328..371519hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3582614
SamplesHuRef
Known GenesB4GALNT4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990569
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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