A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730045



Internal ID10313681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33478358..33479423hg38UCSC Ensembl
Outerchr5:33478463..33479528hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974332, essv6697751
SamplesSSM038, SSM029
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)esv2730045
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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