A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725731



Internal ID10309367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:104697470..104697568hg38UCSC Ensembl
Outerchr3:104416314..104416412hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854158, essv6669943, essv6973504, essv6962519, essv6847996, essv6864717, essv6955797
SamplesSSM027, SSM087, SSM029, SSM026, SSM089, SSM031, SSM086
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)esv2725731
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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