A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725219



Internal ID10308855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45108590..45108809hg38UCSC Ensembl
Outerchr3:45150082..45150301hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718662, essv6777471, essv6922313, essv6847903, essv6751014
SamplesSSM057, SSM018, SSM067, SSM044, SSM086
Known GenesCDCP1
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)esv2725219
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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