A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721183



Internal ID10304819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177660004..177660158hg38UCSC Ensembl
Outerchr2:178524732..178524886hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906549, essv6718563
SamplesSSM044, SSM014
Known GenesPDE11A
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)esv2721183
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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