A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727906



Internal ID9962218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247870777..247871067hg38UCSC Ensembl
Outerchr1:248034079..248034369hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679392, essv6813352, essv6769747, essv6968170, essv6726063, essv6675415, essv6797690
SamplesSSM065, SSM033, SSM072, SSM032, SSM077, SSM028, SSM046
Known GenesTRIM58
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)esv2727906
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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