A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890562



Internal ID10284988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154676012..154676141hg38UCSC Ensembl
Outerchr7:154467722..154467851hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735510, esv2735509
Supporting Variants
SamplesSSM097
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)essv6890562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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