A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572303



Internal ID6696999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50588356..50588358hg38UCSC Ensembl
chr17:48665717..48665719hg19UCSC Ensembl
chr17:46020716..46020718hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989095
Supporting Variants
SamplesHuRef
Known GenesCACNA1G
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572303
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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