A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009643



Internal ID6721747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108575281..108581168hg38UCSC Ensembl
Outerchr1:109117903..109123790hg19UCSC Ensembl
Outerchr1:108919426..108925313hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385888
hg195888
hg185888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564589
SamplesHuRef
Known GenesFAM102B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009643
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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