A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748133



Internal ID10329103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112199203..112199565hg38UCSC Ensembl
Outerchr13:112853517..112853879hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772295, essv6949316, essv6971061, essv6966167, essv6842665, essv6953465
SamplesSSM027, SSM024, SSM065, SSM028, SSM084, SSM025
Known GenesLINC01070
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)esv2748133
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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