A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719217



Internal ID10302853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167913350..167914190hg38UCSC Ensembl
Outerchr1:167882588..167883428hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666973, essv6745041
SamplesSSM055, SSM030
Known GenesADCY10
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)esv2719217
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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