A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722840



Internal ID9787352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110593997..110594142hg38UCSC Ensembl
Outerchr4:111515153..111515298hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728138, esv2728141, esv2728142
Supporting Variants
SamplesSSM045
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)essv6722840
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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