A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002193



Internal ID7067310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12449673..12456875hg38UCSC Ensembl
Outerchr17:12352990..12360192hg19UCSC Ensembl
Outerchr17:12293715..12300917hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg387203
hg197203
hg187203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565408
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002193
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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