A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748042



Internal ID10329012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110677500..110677707hg38UCSC Ensembl
Outerchr13:111329847..111330054hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959632, essv6827946, essv6867434, essv6678033, essv6809562, essv6709680, essv6949305, essv6909098
SamplesSSM024, SSM075, SSM041, SSM026, SSM089, SSM032, SSM014, SSM080
Known GenesCARS2
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)esv2748042
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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