A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743361



Internal ID10297477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7902863..7903275hg38UCSC Ensembl
Outerchr1:7962923..7963335hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773427, essv6675192, essv6941774, essv6725844, essv6853222, essv6925680, essv6913991, essv6816572, essv6789141, essv6707256, essv6902522, essv6721996, essv6859175, essv6929051, essv6699590, essv6692751, essv6954727, essv6780858, essv6937669, essv6888997, essv6686148, essv6821171, essv6669143, essv6759030, essv6898604, essv6846997, essv6695599, essv6696982, essv6883251, essv6972323
SamplesSSM100, SSM045, SSM046, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM088, SSM041, SSM023, SSM061, SSM029, SSM026, SSM019, SSM035, SSM032, SSM086, SSM066, SSM006, SSM068, SSM020, SSM078, SSM016, SSM005, SSM037, SSM022, SSM070, SSM095
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)esv2743361
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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