A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830556



Internal ID10230982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154660098..154660531hg38UCSC Ensembl
Outerchr7:154451808..154452241hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735505
Supporting Variants
SamplesSSM081
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)essv6830556
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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