A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004453



Internal ID6716577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35744536..35753153hg38UCSC Ensembl
Outerchr17:34071555..34080172hg19UCSC Ensembl
Outerchr17:31095668..31104285hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg388618
hg198618
hg188618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565001
SamplesHuRef
Known GenesGAS2L2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004453
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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