A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726084



Internal ID10309720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241192073..241207603hg38UCSC Ensembl
Outerchr1:241355373..241370903hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815531
hg1915531
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, essv6733631, essv6797667, essv6726041, essv6864202, essv6896000, essv6832768, essv6847339, essv6968146, essv6675401, essv6877817, essv6807548, essv6946681, essv6785189, essv6886139, essv6764318, essv6883404, essv6972704, essv6844050, essv6722196, essv6804578, essv6906312, essv6918451, 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, SSM003, SSM031, SSM044, SSM014, SSM086, SSM006, SSM085, SSM040, SSM072, SSM082, SSM078, SSM005, SSM080, SSM076, SSM095, SSM034, SSM099, SSM049, SSM063
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)esv2726084
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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