A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722428



Internal ID10306064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212190071..212190489hg38UCSC Ensembl
Outerchr1:212363413..212363831hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829155, essv6789322, essv6707400, essv6955001, essv6675362, essv6793467, essv6968106, essv6777087, essv6692945, essv6797622, essv6937836, essv6729780, essv6847282, essv6918096, essv6669217, essv6785156
SamplesSSM071, SSM041, SSM028, SSM047, SSM069, SSM026, SSM032, SSM003, SSM031, SSM067, SSM086, SSM081, SSM072, SSM037, SSM022, SSM070
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)esv2722428
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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