A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003353



Internal ID6715485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31369655..31376762hg38UCSC Ensembl
Outerchr1:31842502..31849609hg19UCSC Ensembl
Outerchr1:31615089..31622196hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg387108
hg197108
hg187108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564863
SamplesHuRef
Known GenesFABP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003353
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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