A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007414



Internal ID7072508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41323733..41333443hg38UCSC Ensembl
Outerchr17:39479985..39489695hg19UCSC Ensembl
Outerchr17:36733511..36743221hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389711
hg199711
hg189711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565236
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007414
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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