A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719945



Internal ID10303581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38325420..38325974hg38UCSC Ensembl
Outerchr2:38552562..38553116hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699940, essv6753737, essv6847489
SamplesSSM039, SSM058, SSM086
Known GenesATL2
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)esv2719945
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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