A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715943



Internal ID10299579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41865327..41865447hg38UCSC Ensembl
Outerchr17:40021580..40021700hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966923
SamplesSSM027
Known GenesKLHL11
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)esv2715943
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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