A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745619



Internal ID10326589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25767578..25768517hg38UCSC Ensembl
Outerchr1:26094069..26095008hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843954, essv6836199, essv6785003
SamplesSSM083, SSM011, SSM069
Known GenesMAN1C1
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)esv2745619
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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