A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745741



Internal ID10326711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27608533..27609363hg38UCSC Ensembl
Outerchr1:27935044..27935874hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954766, essv6832611, essv6972370, essv6784776, essv6816600, essv6917448, essv6801628, essv6695776, essv6742155, essv6759061
SamplesSSM009, SSM073, SSM061, SSM029, SSM026, SSM017, SSM006, SSM082, SSM078, SSM053
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)esv2745741
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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