A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730393



Internal ID10314029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82908663..82908864hg38UCSC Ensembl
Outerchr5:82204482..82204683hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829978, essv6881249, essv6730683, essv6958895, essv6943135, essv6770590, essv6890011, essv6670807
SamplesSSM065, SSM097, SSM023, SSM047, SSM094, SSM031, SSM081, SSM004
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)esv2730393
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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