A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6878859



Internal ID10274456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102848247..102848581hg38UCSC Ensembl
Outerchr7:102488694..102489028hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734948
Supporting Variants
SamplesSSM093
Known GenesFBXL13
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)essv6878859
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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