A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716729



Internal ID10300365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119016136..119016474hg38UCSC Ensembl
Outerchr1:119558759..119559097hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669103, essv6804477, essv6859299, essv6925772, essv6699693, essv6864071, essv6853373, essv6703926, essv6868783, essv6847162, essv6785088, essv6961701, essv6807450, essv6832679, essv6780971, essv6898685, essv6886054, essv6880494
SamplesSSM100, SSM027, SSM075, SSM087, SSM039, SSM074, SSM088, SSM090, SSM069, SSM096, SSM089, SSM019, SSM094, SSM031, SSM086, SSM068, SSM040, SSM082
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)esv2716729
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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