A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572850



Internal ID7044232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:413797..413856hg38UCSC Ensembl
chr17:263588..263647hg19UCSC Ensembl
chr17:263934..263993hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998391
Supporting Variants
SamplesHuRef
Known GenesC17orf97
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572850
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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