A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991002



Internal ID6726967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31332573..31332922hg38UCSC Ensembl
chr17:29659591..29659940hg19UCSC Ensembl
chr17:26683717..26684066hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38350
hg19350
hg18350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3578026
SamplesHuRef
Known GenesNF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991002
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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