A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6786241



Internal ID9844414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151410219..151413191hg38UCSC Ensembl
Outerchr5:150789780..150792752hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382973
hg192973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730921
Supporting Variants
SamplesSSM069
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)essv6786241
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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