A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716263



Internal ID9950551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111544649..111544980hg38UCSC Ensembl
Outerchr1:112087271..112087602hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703921, essv6793383, essv6789239, essv6722074, essv6847152
SamplesSSM071, SSM045, SSM086, SSM040, SSM070
Known GenesADORA3
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)esv2716263
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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