A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727210



Internal ID10310846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14914358..14914838hg38UCSC Ensembl
Outerchr4:14915982..14916462hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754082, essv6742688
SamplesSSM058, SSM053
Known GenesCPEB2-AS1
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)esv2727210
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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