A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868028



Internal ID9918021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68552676..68552916hg38UCSC Ensembl
Outerchr17:66548817..66549057hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716148
Supporting Variants
SamplesSSM089
Known GenesFAM20A
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6868028
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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