A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6974483



Internal ID9983803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:96438142..96438517hg38UCSC Ensembl
Outerchr7:96067454..96067829hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734852
Supporting Variants
SamplesSSM001
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)essv6974483
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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