A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718884



Internal ID10302520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161558362..161653012hg38UCSC Ensembl
Outerchr1:161528152..161622802hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3894651
hg1994651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv38e201
Supporting Variantsessv6864109, essv6696599, essv6898707, essv6750702, essv6816737, essv6759157, essv6670143, essv6738921, essv6753610, essv6871807, essv6764256, essv6972571
SamplesSSM100, SSM057, SSM058, SSM061, SSM029, SSM089, SSM006, SSM078, SSM005, SSM091, SSM052, SSM063
Known GenesFCGR2C, FCGR3B, HSPA7
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)esv2718884
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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