A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727326



Internal ID10310962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:28588399..28588868hg38UCSC Ensembl
Outerchr4:28590021..28590490hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938452, essv6790866, essv6700450, essv6848236, essv6956069, essv6789946, essv6693618, essv6829690, essv6922551, essv6942708
SamplesSSM039, SSM009, SSM023, SSM018, SSM026, SSM086, SSM081, SSM037, SSM022, 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)esv2727326
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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