A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743630



Internal ID10324600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9786414..9796622hg38UCSC Ensembl
Outerchr1:9846472..9856680hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3810209
hg1910209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679159, essv6972326, essv6738802, essv6747767, essv6913992, essv6816665, essv6876687, essv6714235, essv6748242, essv6804396, essv6698597, essv6961542, essv6766533, essv6816573, essv6742130
SamplesSSM008, SSM027, SSM064, SSM074, SSM029, SSM001, SSM033, SSM078, SSM016, SSM053, SSM010, SSM043, SSM052, SSM056, SSM012
Known GenesCLSTN1
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)esv2743630
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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