A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749552



Internal ID10330522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69561454..69561969hg38UCSC Ensembl
Outerchr1:70027137..70027652hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829051, essv6933354, essv6736015, essv6753540, essv6733524, essv6972441, essv6950612, essv6836230, essv6699646, essv6950651, essv6669621, essv6892364, essv6742189, essv6747826, essv6679220, essv6756589, essv6929120, essv6696076, essv6840019, essv6769573, essv6917489
SamplesSSM059, SSM083, SSM065, SSM039, SSM050, SSM058, SSM084, SSM021, SSM029, SSM017, SSM033, SSM006, SSM081, SSM020, SSM053, SSM005, SSM025, SSM004, SSM098, SSM049, SSM056
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)esv2749552
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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