A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747428



Internal ID9981712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52707390..52707475hg38UCSC Ensembl
Outerchr13:53281525..53281610hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673403, essv6862576
SamplesSSM088, SSM031
Known GenesLECT1
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)esv2747428
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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