A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714862



Internal ID9949147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92826329..92827289hg38UCSC Ensembl
Outerchr1:93291886..93292846hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753556, essv6961671, essv6759112, essv6932372, essv6744999, essv6816673, essv6914055, essv6761895
SamplesSSM027, SSM058, SSM061, SSM062, SSM001, SSM078, SSM016, SSM055
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)esv2714862
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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