A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993086



Internal ID6729047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109254248..109263222hg38UCSC Ensembl
Outerchr1:109796870..109805844hg19UCSC Ensembl
Outerchr1:109598393..109607367hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg388975
hg198975
hg188975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565149
SamplesHuRef
Known GenesCELSR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993086
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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