A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729734



Internal ID10313370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:9989982..9990190hg38UCSC Ensembl
Outerchr5:9990094..9990302hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860472, essv6854814, essv6963266, essv6817853, essv6848691, essv6907216, essv6974281, essv6865261, essv6676278
SamplesSSM027, SSM087, SSM088, SSM029, SSM089, SSM032, SSM014, SSM086, SSM078
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)esv2729734
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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