A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730113



Internal ID10313749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:39271838..39272287hg38UCSC Ensembl
Outerchr5:39271940..39272389hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708195, essv6958729
SamplesSSM041, 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)esv2730113
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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