A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578026



Internal ID6702722
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991002
Supporting Variants
SamplesHuRef
Known GenesNF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578026
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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