A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848924



Internal ID10247513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:175219011..175219078hg38UCSC Ensembl
Outerchr5:174646014..174646081hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731157, esv2731156
Supporting Variants
SamplesSSM086
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)essv6848924
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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