A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827981



Internal ID10228665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25677906..25678269hg38UCSC Ensembl
Outerchr14:26147112..26147475hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748503
Supporting Variants
SamplesSSM080
Known Genes
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)essv6827981
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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