A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749085



Internal ID9983369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63980892..63982319hg38UCSC Ensembl
Outerchr1:64446564..64447991hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736007, essv6801649, essv6703897, essv6666929, essv6725888, essv6816629, essv6868746, essv6877693, essv6789201, essv6722042, essv6921774, essv6914032, essv6832636, essv6836226, essv6946536, essv6679213, essv6829046, essv6941837, essv6714289, essv6961633, essv6738849, essv6729667
SamplesSSM083, SSM027, SSM024, SSM045, SSM046, SSM073, SSM093, SSM050, SSM023, SSM090, SSM047, SSM018, SSM033, SSM081, SSM040, SSM082, SSM078, SSM016, SSM070, SSM043, SSM052, SSM030
Known GenesROR1
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)esv2749085
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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