A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855289



Internal ID9906556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:70010341..70016524hg38UCSC Ensembl
Outerchr6:70720233..70726416hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386184
hg196184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732254
Supporting Variants
SamplesSSM087
Known GenesCOL19A1
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)essv6855289
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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