A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721756



Internal ID10305392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238275748..238276951hg38UCSC Ensembl
Outerchr2:239184389..239185592hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973260, essv6853976, essv6848176, essv6914383, essv6955582, essv6859778
SamplesSSM011, SSM087, SSM088, SSM029, SSM026, SSM016
Known GenesPER2
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)esv2721756
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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