A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001211



Internal ID6713350
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572754
SamplesHuRef
Known GenesATP2A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001211
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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