A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900809



Internal ID9665549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52707265..52707645hg38UCSC Ensembl
Outerchr13:53281400..53281780hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747426
Supporting Variants
SamplesSSM012
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)essv6900809
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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