A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718251



Internal ID10301887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153222975..153229336hg38UCSC Ensembl
Outerchr1:153195451..153201812hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386362
hg196362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962372, essv6777034, essv6733573
SamplesSSM067, SSM001, SSM049
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)esv2718251
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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