A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728552



Internal ID9962866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:153244183..153244442hg38UCSC Ensembl
Outerchr4:154165335..154165594hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739624, essv6670483
SamplesSSM031, SSM052
Known GenesTRIM2
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)esv2728552
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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