A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719474



Internal ID10303110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171220331..171221319hg38UCSC Ensembl
Outerchr1:171189470..171190458hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871813, essv6666974, essv6847221, essv6785765, essv6853430, essv6816746, essv6933431, essv6859344, essv6753612
SamplesSSM087, SSM009, SSM088, SSM058, SSM021, SSM086, SSM078, SSM091, SSM030
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)esv2719474
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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