A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715816



Internal ID9950103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30905657..30906493hg38UCSC Ensembl
Outerchr17:29232675..29233511hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800956, essv6874148, essv6885523, essv6760820, essv6784283, essv6924987, essv6717491, essv6971548, essv6898115, essv6945721, essv6682213, essv6976672, essv6756053, essv6916767, essv6665807
SamplesSSM023, SSM058, SSM028, SSM018, SSM029, SSM001, SSM033, SSM068, SSM072, SSM016, SSM091, SSM095, SSM004, SSM099, SSM043
Known GenesTEFM
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)esv2715816
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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