A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848472



Internal ID10247107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:133358460..133359314hg38UCSC Ensembl
Outerchr4:134279615..134280469hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728360
Supporting Variants
SamplesSSM086
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)essv6848472
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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