A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790499



Internal ID9658714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2808824..2809141hg38UCSC Ensembl
Outerchr4:2810551..2810868hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726859, esv2726835
Supporting Variants
SamplesSSM009
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)essv6790499
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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