A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665734



Internal ID10079309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1551005..1551144hg38UCSC Ensembl
Outerchr17:1454299..1454438hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715469, esv2715470
Supporting Variants
SamplesSSM029
Known GenesPITPNA
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)essv6665734
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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