A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864745



Internal ID10261753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130628745..130634245hg38UCSC Ensembl
Outerchr3:130347589..130353089hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725914
Supporting Variants
SamplesSSM089
Known GenesCOL6A6
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)essv6864745
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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