A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728300



Internal ID10311936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129306193..129306666hg38UCSC Ensembl
Outerchr4:130227348..130227821hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785980, essv6790098, essv6726736, essv6922665, essv6968912, essv6825973, essv6770390
SamplesSSM046, SSM065, SSM028, SSM018, SSM069, SSM080, SSM070
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)esv2728300
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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