A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715814



Internal ID9950101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30661394..30662119hg38UCSC Ensembl
Outerchr17:28988412..28989137hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846464, essv6912619, essv6747294, essv6668541
SamplesSSM002, SSM085, SSM055, SSM030
Known Genes
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)esv2715814
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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