A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966148



Internal ID10070917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110408679..110409285hg38UCSC Ensembl
Outerchr13:111061026..111061632hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748014
Supporting Variants
SamplesSSM027
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)essv6966148
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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