A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725518



Internal ID9959824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236713684..236713923hg38UCSC Ensembl
Outerchr1:236876984..236877223hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669262, essv6847332, essv6864195, essv6816827, essv6955054, essv6853525, essv6675392, essv6859425, essv6961853
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM032, SSM087, SSM026
Known GenesACTN2
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)esv2725518
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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