A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855817



Internal ID10253719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154676346..154676450hg38UCSC Ensembl
Outerchr7:154468056..154468160hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735511, esv2735509
Supporting Variants
SamplesSSM087
Known GenesDPP6
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)essv6855817
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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