A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004857



Internal ID6716980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45235200..45241940hg38UCSC Ensembl
Outerchr17:43312567..43319307hg19UCSC Ensembl
Outerchr17:40668350..40675090hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386741
hg196741
hg186741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563836
SamplesHuRef
Known GenesFMNL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004857
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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