A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715630



Internal ID9949917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9231579..9231769hg38UCSC Ensembl
Outerchr17:9134896..9135086hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682194, essv6812682, essv6843137
SamplesSSM033, SSM084, SSM076
Known GenesNTN1
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)esv2715630
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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