A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678481



Internal ID10093365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5561300..5561710hg38UCSC Ensembl
Outerchr17:5464620..5465030hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715570
Supporting Variants
SamplesSSM032
Known GenesNLRP1
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)essv6678481
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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