A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704473



Internal ID9770821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2808829..2809215hg38UCSC Ensembl
Outerchr4:2810556..2810942hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726859, esv2726835
Supporting Variants
SamplesSSM040
Known GenesSH3BP2
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)essv6704473
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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