A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941036



Internal ID10048924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1550746..1551245hg38UCSC Ensembl
Outerchr17:1454040..1454539hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715469
Supporting Variants
SamplesSSM022
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)essv6941036
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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