A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572754



Internal ID6697450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3930116..3930207hg38UCSC Ensembl
chr17:3833410..3833501hg19UCSC Ensembl
chr17:3780159..3780250hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001211
Supporting Variants
SamplesHuRef
Known GenesATP2A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572754
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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