A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715898



Internal ID9950185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38807077..38808677hg38UCSC Ensembl
Outerchr17:36963330..36964930hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682218, essv6953983, essv6828379, essv6761264, essv6920938, essv6725170, essv6928506, essv6879968, essv6696284, essv6703162, essv6895257, essv6898122, essv6839498, essv6780131, essv6769023, essv6691698, essv6756060, essv6800967, essv6772767
SamplesSSM010, SSM065, SSM033, SSM099, SSM064, SSM025, SSM072, SSM001, SSM039, SSM045, SSM067, SSM005, SSM093, SSM017, SSM037, SSM019, SSM098, SSM058, SSM080
Known GenesCWC25
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)esv2715898
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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