A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723717



Internal ID10307353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:224204830..224205671hg38UCSC Ensembl
Outerchr1:224392532..224393373hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699786, essv6853497, essv6686304, essv6847300, essv6816802, essv6864172, essv6859402, essv6669236, essv6906283, essv6675380, essv6786176, essv6868860, essv6845421, essv6807527, essv6961821, essv6889165, essv6972664, essv6955023
SamplesSSM027, SSM075, SSM011, SSM087, SSM097, SSM039, SSM009, SSM088, SSM090, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, 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)esv2723717
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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