A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009543



Internal ID6721647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45419105..45419105hg38UCSC Ensembl
chr17:43496471..43496471hg19UCSC Ensembl
chr17:40852254..40852254hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579498
SamplesHuRef
Known GenesARHGAP27
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009543
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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