A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748378



Internal ID10329348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113802591..113803665hg38UCSC Ensembl
Outerchr13:114505564..114506638hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673567, essv6744192
SamplesSSM031, SSM053
Known GenesTMEM255B
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)esv2748378
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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