A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790300



Internal ID10193692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73199067..73199210hg38UCSC Ensembl
Outerchr5:72494894..72495037hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730300
Supporting Variants
SamplesSSM070
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)essv6790300
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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