A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890072



Internal ID10284546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154371482..154371606hg38UCSC Ensembl
Outerchr5:153751042..153751166hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730934, esv2730935
Supporting Variants
SamplesSSM097
Known GenesGALNT10
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)essv6890072
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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