A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714030



Internal ID10297666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:82683948..82684386hg38UCSC Ensembl
Outerchr1:83149631..83150069hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877298, essv6776987, essv6961660, essv6950695
SamplesSSM027, SSM067, SSM004, SSM012
Known Genes
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)esv2714030
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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