A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730957



Internal ID10314593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157582968..157583326hg38UCSC Ensembl
Outerchr5:157009976..157010334hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855010, essv6700896, essv6786244, essv6848892
SamplesSSM087, SSM039, SSM069, SSM086
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)esv2730957
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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