A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678031



Internal ID10094657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110408789..110408999hg38UCSC Ensembl
Outerchr13:111061136..111061346hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748015, esv2748014
Supporting Variants
SamplesSSM032
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)essv6678031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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