A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725507



Internal ID9959813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236713684..236713802hg38UCSC Ensembl
Outerchr1:236876984..236877102hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816827, essv6961853, essv6859425, essv6955054, essv6864195, essv6847332, essv6853525
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM086, SSM078
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)esv2725507
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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