A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716803



Internal ID9781918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30967474..30967875hg38UCSC Ensembl
Outerchr12:31120409..31120810hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745711
Supporting Variants
SamplesSSM043
Known GenesTSPAN11
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)essv6716803
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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