A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715817



Internal ID9950104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31332411..31332993hg38UCSC Ensembl
Outerchr17:29659429..29660011hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976683, essv6949797, essv6741618, essv6744469, essv6747295, essv6784284, essv6932609, essv6713597, essv6839311, essv6753027, essv6920931, essv6728962, essv6710046, essv6703153, essv6796740
SamplesSSM053, SSM055, SSM042, SSM020, SSM071, SSM057, SSM039, SSM024, SSM083, SSM041, SSM017, SSM046, SSM052, SSM068, SSM004
Known GenesNF1
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)esv2715817
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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