A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715386



Internal ID10299022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:898389..899164hg38UCSC Ensembl
Outerchr17:801629..802404hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936873, essv6761399, essv6756019, essv6758264, essv6752999, essv6738316, essv6766126, essv6714710, essv6763771, essv6758633, essv6744439
SamplesSSM059, SSM050, SSM057, SSM058, SSM021, SSM061, SSM062, SSM001, SSM006, SSM053, SSM063
Known GenesNXN
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)esv2715386
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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