A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004648



Internal ID7069744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:280360..289992hg38UCSC Ensembl
Outerchr17:130151..139783hg19UCSC Ensembl
Outerchr17:130151..139783hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg389633
hg199633
hg189633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564632
SamplesHuRef
Known GenesRPH3AL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004648
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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