A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718239



Internal ID10301875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153070637..153093693hg38UCSC Ensembl
Outerchr1:153043113..153066169hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3823057
hg1923057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785102, essv6733572, essv6917607, essv6892420, essv6718256, essv6929178, essv6868797, essv6785621, essv6679278, essv6816723
SamplesSSM009, SSM090, SSM069, SSM003, SSM044, SSM033, SSM020, SSM078, SSM098, SSM049
Known GenesSPRR2B, SPRR2E
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)esv2718239
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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