A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725306



Internal ID10308942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:56573658..56587609hg38UCSC Ensembl
Outerchr3:56607686..56621637hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3813952
hg1913952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825593, essv6926157, essv6789188, essv6820675
SamplesSSM009, SSM019, SSM080, SSM010
Known GenesCCDC66
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)esv2725306
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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