A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723151



Internal ID10306787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220052630..220052787hg38UCSC Ensembl
Outerchr1:220225972..220226129hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689412, essv6847292, essv6877794, essv6777095, essv6880555, essv6669227, essv6955013, essv6859391
SamplesSSM036, SSM093, SSM088, SSM026, SSM094, SSM031, SSM067, SSM086
Known GenesRNU5F-1
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)esv2723151
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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