A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761441



Internal ID9821893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36098869..36206214hg38UCSC Ensembl
Outerchr17:34426263..34533614hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38107346
hg19107352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715876
Supporting Variants
SamplesSSM061
Known GenesCCL3L1, CCL3L3, CCL4, TBC1D3B
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)essv6761441
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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