A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727621



Internal ID10311257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54783332..54783808hg38UCSC Ensembl
Outerchr4:55649498..55649974hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854448, essv6781729, essv6739505
SamplesSSM087, SSM068, SSM052
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)esv2727621
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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