A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745430



Internal ID10326400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24076448..24076815hg38UCSC Ensembl
Outerchr1:24402938..24403305hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871725, essv6793301, essv6766556, essv6961572, essv6832607, essv6892327, essv6810344, essv6885988, essv6748498, essv6972363, essv6925699
SamplesSSM008, SSM071, SSM027, SSM064, SSM029, SSM096, SSM019, SSM082, SSM076, SSM091, SSM098
Known GenesMYOM3
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)esv2745430
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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