A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728492



Internal ID10312128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145526444..145527937hg38UCSC Ensembl
Outerchr4:146447596..146449089hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381494
hg191494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719021, essv6751288, essv6854618, essv6837059, essv6704648
SamplesSSM083, SSM087, SSM057, SSM044, SSM040
Known GenesSMAD1
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)esv2728492
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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