A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748019



Internal ID10328989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110408953..110409147hg38UCSC Ensembl
Outerchr13:111061300..111061494hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv239e201
Supporting Variantsessv6812379, essv6882489, essv6857557, essv6809561
SamplesSSM075, SSM087, SSM094, SSM076
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)esv2748019
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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