A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745519



Internal ID10326489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24668021..24670680hg38UCSC Ensembl
Outerchr1:24994512..24997171hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766558, essv6729634, essv6877672, essv6797459
SamplesSSM064, SSM093, SSM047, SSM072
Known GenesSRRM1
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)esv2745519
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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