A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715301



Internal ID10298937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:413664..414212hg38UCSC Ensembl
Outerchr17:263455..264003hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772714, essv6843107, essv6953922
SamplesSSM065, SSM084, SSM025
Known GenesC17orf97
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)esv2715301
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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