A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749941



Internal ID10330911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:74288879..74289981hg38UCSC Ensembl
Outerchr1:74754563..74755665hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381103
hg191103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759096, essv6853317, essv6910107, essv6669037, essv6864022, essv6753545, essv6816650, essv6738860, essv6733527, essv6742191, essv6972450, essv6961649, essv6954835, essv6859256, essv6761887, essv6756592, essv6847105
SamplesSSM059, SSM027, SSM087, SSM088, SSM058, SSM061, SSM029, SSM062, SSM026, SSM089, SSM031, SSM086, SSM015, SSM078, SSM053, SSM052, SSM049
Known GenesFPGT-TNNI3K, TNNI3K
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)esv2749941
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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