A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721365



Internal ID9955661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201669519..201669686hg38UCSC Ensembl
Outerchr2:202534242..202534409hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922210, essv6714670
SamplesSSM018, SSM043
Known GenesMPP4
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)esv2721365
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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