A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564604



Internal ID7035704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82085874..82098584hg38UCSC Ensembl
Outerchr17:80043750..80056460hg19UCSC Ensembl
Outerchr17:77637039..77649749hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812711
hg1912711
hg1812711
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000741
Supporting Variants
SamplesHuRef
Known GenesFASN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564604
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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