A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748010



Internal ID10328980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110385343..110386207hg38UCSC Ensembl
Outerchr13:111037690..111038554hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695782, essv6779653, essv6916315, essv6888159, essv6912820, essv6772277, essv6720897, essv6936382, essv6928098, essv6940795, essv6966147, essv6702672
SamplesSSM027, SSM065, SSM039, SSM021, SSM096, SSM019, SSM003, SSM067, SSM044, SSM015, SSM016, SSM037
Known GenesCOL4A2
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)esv2748010
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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