A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748369



Internal ID9982653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113786495..113786861hg38UCSC Ensembl
Outerchr13:114489468..114489834hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691807, essv6851593, essv6977676, essv6713213, essv6973095
SamplesSSM036, SSM042, SSM029, SSM086, SSM004
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)esv2748369
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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