A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715824



Internal ID10299460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31771528..31772052hg38UCSC Ensembl
Outerchr17:30098547..30099071hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738356, essv6811365, essv6668542, essv6916768, essv6920932, essv6877179, essv6777955, essv6909499, essv6665809
SamplesSSM008, SSM009, SSM050, SSM092, SSM029, SSM017, SSM014, SSM016, 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)esv2715824
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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