A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726106



Internal ID10309742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241197194..241197551hg38UCSC Ensembl
Outerchr1:241360494..241360851hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825193, essv6810492, essv6961861, essv6859433, essv6707438, essv6697098, essv6836370, essv6718349, essv6699816, essv6670866, essv6816837, essv6689440, essv6704027, essv6683005, essv6797667, essv6726041, essv6864202, essv6896000, essv6832768, essv6847339, essv6968146, essv6675401, essv6877817, essv6807548, essv6946681, essv6785189, essv6886139, essv6883404, essv6972704, essv6722196, essv6804578, essv6906312, essv6853537, essv6669274, essv6902728, essv6889195, essv6955066, essv6686328
SamplesSSM036, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM087, SSM097, SSM039, SSM013, SSM093, SSM074, SSM088, SSM041, SSM028, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM014, SSM086, SSM006, SSM040, SSM072, SSM082, SSM078, SSM005, SSM080, SSM076, SSM095, SSM034, SSM099
Known GenesRGS7
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)esv2726106
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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