A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864022



Internal ID10261103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:74289488..74289585hg38UCSC Ensembl
Outerchr1:74755172..74755269hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749952, esv2749941
Supporting Variants
SamplesSSM089
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)essv6864022
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer