A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001340



Internal ID7066467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5683929..5694570hg38UCSC Ensembl
Outerchr17:5587249..5597890hg19UCSC Ensembl
Outerchr17:5527973..5538614hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3810642
hg1910642
hg1810642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564241
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001340
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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