A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714407



Internal ID10298043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86615900..86636106hg38UCSC Ensembl
Outerchr1:87081583..87101789hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3820207
hg1920207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703912, essv6880473, essv6840035, essv6759107, essv6877713
SamplesSSM093, SSM084, SSM061, SSM094, SSM040
Known GenesCLCA3P
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)esv2714407
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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